rs5215 Rat Genome Database

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Variant: rs5215 -  Homo sapiens

RGD ID: 9682577
RS ID: rs5215
ClinVar ID: CV168863
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ11  LOC127820554  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 17,408,630
GRCh38 11 17,387,083
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012446.1:g.6577G>A
NC_000011.10:g.17387083C>T
NC_000011.9:g.17408630C>T
NP_000516.3:p.Val337Ile
More... 		11/25/2020 missense variant association|benign|likely benign AllHighlyPenetrant; Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL; MODY, TYPE 13; none provided; Permanent diabetes mellitus of infancy; Type II diabetes mellitus
GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90250911 Medication use for T2D (number of purchases) 567,671 European ancestry individuals ? NR 5E-22 21.30102999566398 Affymetrix, Illumina [NR] (imputed) 0.009443 Drugs used in diabetes use measurement (EFO:0009924)
 PMID:36653479
GCST009004 Body mass index 806,834 European ancestry individuals T 0.6314 1E-11 11.0 NR [~ 27400000] (imputed) 0.0113 body mass index (EFO:0004340)
 PMID:30239722
GCST004904 Body mass index up to 72,390 Japanese ancestry women, up to 85,894 Japanese ancestry men T 0.66 3E-11 10.522878745280337 Illumina [6108953] (imputed) 0.016 body mass index (EFO:0004340)
 PMID:28892062
GCST000167 Type 2 diabetes 4,549 European ancestry cases, 5,579 European ancestry controls C NR 4E-7 6.3979400086720375 Affymetrix, Illumina [2202892] (imputed) 1.16 PMID:18372903
GCST000025 Type 2 diabetes 1,924 European ancestry cases, 2,938 European ancestry controls C NR 5E-11 10.301029995663981 Affymetrix [393453] 1.14 PMID:17463249
GCST002352 Type 2 diabetes 12,171 European ancestry cases, 56,862 European ancestry controls, 6,952 East Asian ancestry cases, 11,865 East Asian ancestry controls, 5,561 South Asian ancestry cases, 14,458 South Asian ancestry controls, 1,804 Mexican ancestry cases, 779 Mexican ancestry controls C 0.38 3E-11 10.522878745280337 Affymetrix, Illumina [2500000] (imputed) 1.08 PMID:24509480
GCST004894 Type 2 diabetes 6,353 South Asian ancestry cases, 7,179 South Asian ancestry controls, 3,871 European ancestry cases, 16,427 European ancestry controls, 34,840 cases, 114,981 controls T 0.6471 1E-20 20.0 Affymetrix, Illumina [NR] (imputed) 0.068 PMID:28869590
GCST010272 Circulating leptin levels or type 2 diabetes 254,263 individuals ? NR 2E-12 11.698970004336019 NR [NR] N/A leptin measurement (EFO:0005000)
 PMID:32341051
GCST004894 Type 2 diabetes 6,353 South Asian ancestry cases, 7,179 South Asian ancestry controls, 3,871 European ancestry cases, 16,427 European ancestry controls, 34,840 cases, 114,981 controls T 0.6471 8E-14 13.096910013008056 Affymetrix, Illumina [NR] (imputed) 0.0754 PMID:28869590
GCST011991 Psoriasis or type 2 diabetes (trans-disease meta-analysis) 11,024 European ancestry psoriasis cases, 74,124 European ancestry diabetes cases, 840,342 European ancestry controls C NR 1E-11 11.0 NR [8016731] (imputed) 1.07 psoriasis (EFO:0000676)
 PMID:33385400
GCST005047 Type 2 diabetes 6,377 European ancestry male cases, 5,794 European ancestry female cases, 22,243 European ancestry male controls, 34,619 European ancestry female controls C 0.407702923283646 9E-10 9.045757490560675 Affymetrix, Illumina [up to 2500000] (imputed) 1.07 PMID:22885922
GCST90132184 Type 2 diabetes 251,740 European ancestry individuals C 0.373 1E-26 26.0 Affymetrix, Illumina [10454876] (imputed) 0.071 PMID:35551307
GCST90018926 Type 2 diabetes 38,841 European ancestry cases, 451,248 European ancestry controls, 45,383 East Asian ancestry cases, 132,032 East Asian ancestry controls T NR 2E-22 21.69897000433602 Affymetrix, Illumina [25845091] (imputed) 0.0623 PMID:34594039
GCST90132183 Type 2 diabetes 251,740 European ancestry individuals, 139,705 East Asian ancestry individuals, 40,737 South Asian ancestry individuals, 27,417 Hispanic individuals, 30,167 African American individuals, 2,426 Zulu ancestry individuals C NR 3E-49 48.52287874528034 Affymetrix, Illumina [10454876] (imputed) 1.08 PMID:35551307
GCST90132185 Type 2 diabetes 139,705 East Asian ancestry individuals C 0.382 1E-23 23.0 Affymetrix, Illumina [9106251] (imputed) 0.086 PMID:35551307
GCST006867 Type 2 diabetes 61,714 European ancestry cases, 1,178 Pakistani ancestry cases, 593,952 European ancestry controls, 2,472 Pakistani ancestry controls C 0.360058778070131 2E-20 19.69897000433602 NR [5035015] (imputed) 0.0678 PMID:30054458
GCST007517 Type 2 diabetes up to 48,286 European ancestry cases, up to 250,671 European ancestry controls C 0.389 4E-17 16.397940008672037 Affymetrix, Illumina [247470] 1.06 PMID:29632382
GCST007518 Type 2 diabetes (adjusted for BMI) up to 48,286 European ancestry cases, up to 250,671 European ancestry controls C 0.389 5E-22 21.30102999566398 Affymetrix, Illumina [247470] 1.07 PMID:29632382
GCST90018955 Glucose levels 314,916 European ancestry individuals, 133,336 East Asian ancestry individuals T NR 2E-15 14.698970004336019 Affymetrix, Illumina [20535873] (imputed) 0.0166 glucose measurement (EFO:0004468)
 PMID:34594039

Variant Details
Variant Transcripts
Gene Symbol:KCNJ11
Accession:NM_001166290
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTIKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_000525
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 337
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFL
CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN
AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM
ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA
EEDGRYSVDYSKFGNTIKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001377296
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTIKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001377297
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTIKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*
Variant Samples
Additional References at PubMed
PMID:11872696   PMID:12475776   PMID:15855351   PMID:17257281   PMID:18414213   PMID:22958899   PMID:25741868   PMID:26467025   PMID:28492532   PMID:33853507  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000146099 CLINVAR
  RCV000262909 CLINVAR
  RCV000357357 CLINVAR
  RCV000576497 CLINVAR
  RCV001275131 CLINVAR
  RCV001512206 CLINVAR
  RCV001533219 CLINVAR
  RCV002221500 CLINVAR
dbSNP (RS) rs5215 CLINVAR
GWAS Catalog GCST004894 GWAS Catalog
  GCST004904 GWAS Catalog
  GCST009004 GWAS Catalog
MedGen C0011860 CLINVAR
  C1833104 CLINVAR
  C1864623 CLINVAR
  C2931833 CLINVAR
  C3661900 CLINVAR
  C4225365 CLINVAR
  C5394296 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNJ11 CLINVAR
OMIM 125853 CLINVAR
  600937 CLINVAR
  601820 CLINVAR
  606176 CLINVAR
  610582 CLINVAR
  616329 CLINVAR
  618856 CLINVAR
SNOMED CT 44054006 CLINVAR