rs2230199 Rat Genome Database

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Variant: rs2230199 -  Homo sapiens

RGD ID: 8565975
RS ID: rs2230199
ClinVar ID: CV32095
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 6,718,387
GRCh38 19 6,718,376
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_27:g.7276C>G
NG_009557.1:g.7276C>G
NC_000019.10:g.6718376G>C
NC_000019.9:g.6718387G>C
More... 		06/09/2021 missense|missense variant risk factor|benign Focal sclerosis with hyalinosis; Glomerulosclerosis, focal; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Experimental Data Annotations     Click to see Annotation Detail View

Clinical Measurement

Vertebrate Trait

GWAS QTLs Related by Peak Marker
Data has come from the GWAS Catalog   
QTL GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG Peak Marker Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GWAS1635697_H GCST90479647 Takes medication for Macular Degeneration? 840 African American or Afro-Caribbean cases, 54,665 African American or Afro-Caribbean controls, 7,820 European ancestry cases, 307,848 European ancestry controls, 452 Hispanic or Latin American cases, 28,862 Hispanic or Latin American controls G 0.82 1E-32 32 rs2230199 0.2261 drug use measurement (EFO:0007010)
macular degeneration (EFO:0009606)
 PMID:39024449
GWAS1635704_H GCST90479648 Macular degeneration 1,691 African American or Afro-Caribbean cases, 53,814 African American or Afro-Caribbean controls, 17,289 European ancestry cases, 298,379 European ancestry controls, 1,122 Hispanic or Latin American cases, 28,192 Hispanic or Latin American controls G 0.82 9E-33 32.046 rs2230199 0.1603 macular degeneration (EFO:0009606)
 PMID:39024449
GWAS1645363_H GCST90475851 Macular degeneration, dry (PheCode 362.21) 27,144 European ancestry cases, 412,580 European ancestry controls G 0.7915 2E-94 93.699 rs2230199 0.2184 macular degeneration (EFO:0009606)
 PMID:39024449
GWAS1645372_H GCST90475852 Macular degeneration, wet (PheCode 362.22) 7,388 European ancestry cases, 440,688 European ancestry controls G 0.7911 2E-35 34.699 rs2230199 0.2461 macular degeneration (EFO:0009606)
 PMID:39024449
GWAS1645658_H GCST90475855 Drusen (degenerative) of retina (PheCode 362.27) 8,539 European ancestry cases, 430,460 European ancestry controls G 0.7915 5E-15 14.302 rs2230199 0.1435 retinopathy (EFO:0003839)
 PMID:39024449
GWAS1645684_H GCST90475857 Macular degeneration (senile) of retina NOS (PheCode 362.29) 11,690 European ancestry cases, 430,340 European ancestry controls G 0.7913 5E-39 38.302 rs2230199 0.2098 age-related macular degeneration (EFO:0001365)
 PMID:39024449
GWAS1645773_H GCST90475847 Other retinal disorders (PheCode 362) 88,461 European ancestry cases, 323,715 European ancestry controls G 0.7908 3E-27 26.523 rs2230199 0.06977 retinopathy (EFO:0003839)
 PMID:39024449
GWAS1645795_H GCST90475849 Degeneration of macula and posterior pole of retina (PheCode 362.2) 58,583 European ancestry cases, 368,304 European ancestry controls G 0.791 3E-57 56.523 rs2230199 0.1211 PMID:39024449
GWAS1649934_H GCST90480049 Degeneration of macula and posterior pole of retina (PheCode 362.2) 7,126 African American or Afro-Caribbean cases, 109,352 African American or Afro-Caribbean controls, 4,642 Hispanic or Latin American cases, 52,515 Hispanic or Latin American controls, 585 East Asian ancestry cases, 5,948 East Asian ancestry controls, 58,583 European ancestry cases, 368,304 European ancestry controls G 0.8329 1E-45 45 rs2230199 0.1176 PMID:39024449
GWAS1649986_H GCST90480047 Drusen (degenerative) of retina (PheCode 362.27) 1,570 African American or Afro-Caribbean cases, 118,236 African American or Afro-Caribbean controls, 8,539 European ancestry cases, 430,460 European ancestry controls, 679 Hispanic or Latin American cases, 58,088 Hispanic or Latin American controls G 0.8316 9E-13 12.046 rs2230199 0.1295 retinopathy (EFO:0003839)
 PMID:39024449
GWAS1650008_H GCST90480048 Macular degeneration (senile) of retina NOS (PheCode 362.29) 551 African American or Afro-Caribbean cases, 120,372 African American or Afro-Caribbean controls, 11,690 European ancestry cases, 430,340 European ancestry controls, 588 Hispanic or Latin American cases, 58,624 Hispanic or Latin American controls G 0.8314 9E-40 39.046 rs2230199 0.2141 age-related macular degeneration (EFO:0001365)
 PMID:39024449
GWAS1650011_H GCST90480056 Other retinal disorders (PheCode 362) 20,545 African American or Afro-Caribbean cases, 89,438 African American or Afro-Caribbean controls, 8,808 Hispanic or Latin American cases, 45,996 Hispanic or Latin American controls, 1,116 East Asian ancestry cases, 5,145 East Asian ancestry controls, 88,461 European ancestry cases, 323,715 European ancestry controls G 0.8321 2E-20 19.699 rs2230199 0.06477 retinopathy (EFO:0003839)
 PMID:39024449
GWAS1650376_H GCST90480044 Macular degeneration, wet (PheCode 362.22) 295 African American or Afro-Caribbean cases, 121,288 African American or Afro-Caribbean controls, 7,388 European ancestry cases, 440,688 European ancestry controls, 414 Hispanic or Latin American cases, 59,279 Hispanic or Latin American controls G 0.8311 7E-37 36.155 rs2230199 0.2503 macular degeneration (EFO:0009606)
 PMID:39024449
GWAS1650390_H GCST90480043 Macular degeneration, dry (PheCode 362.21) 1,083 African American or Afro-Caribbean cases, 119,609 African American or Afro-Caribbean controls, 27,144 European ancestry cases, 412,580 European ancestry controls, 1,519 Hispanic or Latin American cases, 57,488 Hispanic or Latin American controls G 0.8316 2E-84 83.699 rs2230199 0.2198 macular degeneration (EFO:0009606)
 PMID:39024449
GWAS1654589_H GCST90475386 Macular degeneration 17,289 European ancestry cases, 298,379 European ancestry controls G 0.7914 4E-35 34.398 rs2230199 0.1654 macular degeneration (EFO:0009606)
 PMID:39024449
GWAS1654606_H GCST90475387 Takes medication for Macular Degeneration? 7,820 European ancestry cases, 307,848 European ancestry controls G 0.7914 4E-33 32.398 rs2230199 0.2319 drug use measurement (EFO:0007010)
macular degeneration (EFO:0009606)
 PMID:39024449
GWAS1170800_H GCST005359 Disease progression in age-related macular degeneration 1,105 progressed eyes and 3,912 non-progressed eyes from 2,721 European ancestry individuals G 0.24 1E-9 9 rs2230199 1.45 age-related macular degeneration (EFO:0001365)
disease progression measurement (EFO:0008336)
 PMID:29346644
GWAS676234_H GCST001579 Age-related macular degeneration (choroidal neovascularisation) 1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls C 0.193 1E-12 12 rs2230199 1.61 wet macular degeneration (EFO:0004683)
 PMID:22705344
GWAS676241_H GCST001578 Age-related macular degeneration (geographic atrophy) 819 European ancestry geographic atrophy cases, 4,134 European ancestry controls C .19 5E-13 12.302 rs2230199 1.83 atrophic macular degeneration (EFO:1001492)
 PMID:22705344
GWAS677839_H GCST001884 Age-related macular degeneration 6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls C 0.2 1E-41 41 rs2230199 1.42 age-related macular degeneration (EFO:0001365)
 PMID:23455636
GWAS678084_H GCST000653 Age-related macular degeneration 979 cases, 1,709 controls ? NR 2E-8 7.699 rs2230199 N/A age-related macular degeneration (EFO:0001365)
 PMID:20385826
GWAS1187487_H GCST003219 Advanced age-related macular degeneration 16,144 European ancestry cases, 17,832 European ancestry controls ? NR 4E-69 68.398 rs2230199 1.43 atrophic macular degeneration (EFO:1001492)
age-related macular degeneration (EFO:0001365)
wet macular degeneration (EFO:0004683)
 PMID:26691988
GWAS693885_H GCST000806 Age-related macular degeneration 684 European ancestry cases, 188 European ancestry controls C NR 1E-8 8 rs2230199 1.44 age-related macular degeneration (EFO:0001365)
 PMID:20861866
GWAS698333_H GCST001100 Age-related macular degeneration 2,594 European ancestry cases, 4,134 European ancestry controls C 0.19 5E-29 28.302 rs2230199 1.53 age-related macular degeneration (EFO:0001365)
 PMID:21665990
GWAS699973_H GCST000652 Age-related macular degeneration 2,157 European ancestry cases, 1,150 European ancestry controls C 0.163 1E-10 10 rs2230199 1.74 age-related macular degeneration (EFO:0001365)
 PMID:20385819
GWAS1219041_H GCST90089593 Serum levels of protein HLA-DRB3 5,351 Icelandic ancestry individuals C 0.2359 2E-21 20.699 rs2230199 0.197548 blood protein measurement (EFO:0007937)
 PMID:35078996
GWAS1273298_H GCST90246777 Complement C3b levels 10,708 European ancestry individuals C 0.21 9E-17 16.046 rs2230199 0.134 complement C3B measurement (EFO:0020275)
 PMID:34648354
GWAS1361077_H GCST90137937 Complement C3d fragment levels 1,852 African American or Afro-Caribbean individuals ? NR 1E-16 16 rs2230199 0.42 complement C3D fragment measurement (EFO:0020277)
 PMID:34814699
GWAS1368331_H GCST90162444 Complement C3d fragment levels 2,935 Qatari ancestry individuals C 0.116695 2E-13 12.699 rs2230199 0.306816 complement C3D fragment measurement (EFO:0020277)
 PMID:36168886
GWAS1378694_H GCST90448094 Age-related macular degeneration 2,123 European ancestry cases, 2,704 European ancestry controls ? NR 4E-24 23.398 rs2230199 1.649 age-related macular degeneration (EFO:0001365)
 PMID:37975850
GWAS1380681_H GCST90446797 Age-related macular degeneration 2,394 European ancestry cases, 2,393 European ancestry controls ? NR 3E-20 19.523 rs2230199 N/A age-related macular degeneration (EFO:0001365)
 PMID:37934784

Variant Details
Variant Transcripts
Gene Symbol:C3
Accession:NM_000064
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPTSGPSLLLLLLTHLPLALGSPMYSIITPNILRLESEETMVLEAHDAQGDVPVTVTVHDFPGKKLVLSSEKTVLTPAT
NHMGNVTFTIPANREFKSEKGGNKFVTVQATFGTQVVEKVVLVSLQSGYLFIQTDKTIYTPGSTVLYRIFTVNHKLLPVG
RTVMVNIENPEGIPVKQDSLSSQNQLGVLPLSWDIPELVNMGQWKIRAYYENSPQQVFSTEFEVKEYVLPSFEVIVEPTE
KFYYIYNEKGLEVTITARFLYGKKVEGTAFVIFGIQDGEQRISLPESLKRIPIEDGSGEVVLSRKVLLDGVQNPRAEDLV
GKSLYVSATVILHSGSDMVQAERSGIPIVTSPYQIHFTKTPKYFKPGMPFDLMVFVTNPDGSPAYRVPVAVQGEDTVQSL
TQGDGVAKLSINTHPSQKPLSITVRTKKQELSEAEQATRTMQALPYSTVGNSNNYLHLSVLRTELRPGETLNVNFLLRMD
RAHEAKIRYYTYLIMNKGRLLKAGRQVREPGQDLVVLPLSITTDFIPSFRLVAYYTLIGASGQREVVADSVWVDVKDSCV
GSLVVKSGQSEDRQPVPGQQMTLKIEGDHGARVVLVAVDKGVFVLNKKNKLTQSKIWDVVEKADIGCTPGSGKDYAGVFS
DAGLTFTSSSGQQTAQRAELQCPQPAARRRRSVQLTEKRMDKVGKYPKELRKCCEDGMRENPMRFSCQRRTRFISLGEAC
KKVFLDCCNYITELRRQHARASHLGLARSNLDEDIIAEENIVSRSEFPESWLWNVEDLKEPPKNGISTKLMNIFLKDSIT
TWEILAVSMSDKKGICVADPFEVTVMQDFFIDLRLPYSVVRNEQVEIRAVLYNYRQNQELKVRVELLHNPAFCSLATTKR
RHQQTVTIPPKSSLSVPYVIVPLKTGLQEVEVKAAVYHHFISDGVRKSLKVVPEGIRMNKTVAVRTLDPERLGREGVQKE
DIPPADLSDQVPDTESETRILLQGTPVAQMTEDAVDAERLKHLIVTPSGCGEQNMIGMTPTVIAVHYLDETEQWEKFGLE
KRQGALELIKKGYTQQLAFRQPSSAFAAFVKRAPSTWLTAYVVKVFSLAVNLIAIDSQVLCGAVKWLILEKQKPDGVFQE
DAPVIHQEMIGGLRNNNEKDMALTAFVLISLQEAKDICEEQVNSLPGSITKAGDFLEANYMNLQRSYTVAIAGYALAQMG
RLKGPLLNKFLTTAKDKNRWEDPGKQLYNVEATSYALLALLQLKDFDFVPPVVRWLNEQRYYGGGYGSTQATFMVFQALA
QYQKDAPDHQELNLDVSLQLPSRSSKITHRIHWESASLLRSEETKENEGFTVTAEGKGQGTLSVVTMYHAKAKDQLTCNK
FDLKVTIKPAPETEKRPQDAKNTMILEICTRYRGDQDATMSILDISMMTGFAPDTDDLKQLANGVDRYISKYELDKAFSD
RNTLIIYLDKVSHSEDDCLAFKVHQYFNVELIQPGAVKVYAYYNLEESCTRFYHPEKEDGKLNKLCRDELCRCAEENCFI
QKSDDKVTLEERLDKACEPGVDYVYKTRLVKVQLSNDFDEYIMAIEQTIKSGSDEVQVGQQRTFISPIKCREALKLEEKK
HYLMWGLSSDFWGEKPNLSYIIGKDTWVEHWPEEDECQDEENQKQCQDLGAFTESMVVFGCPN*
Variant Samples
Additional References at PubMed
PMID:1976733   PMID:7870343   PMID:16687714   PMID:17634448   PMID:17767156   PMID:19259132   PMID:20664795   PMID:21576320   PMID:22718507   PMID:23112567   PMID:23455636   PMID:25741868  
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000018584 CLINVAR
  RCV000018585 CLINVAR
  RCV000395565 CLINVAR
  RCV001521403 CLINVAR
  RCV002293984 CLINVAR
  RCV002444434 CLINVAR
dbSNP (RS) rs2230199 CLINVAR
GWAS Catalog GCST000652 GWAS Catalog
  GCST000806 GWAS Catalog
  GCST001100 GWAS Catalog
  GCST001578 GWAS Catalog
  GCST001579 GWAS Catalog
  GCST001884 GWAS Catalog
MedGen C0017668 CLINVAR
  C0950123 CLINVAR
  C1969651 CLINVAR
  C3661900 CLINVAR
NCBI Gene C3 CLINVAR
OMIM 120700 CLINVAR
  611378 CLINVAR
OMIM Allele 120700.0001 CLINVAR