rs6897932 Rat Genome Database

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Variant: rs6897932 -  Homo sapiens

RGD ID: 8687801
RS ID: rs6897932
ClinVar ID: CV138269
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL7R  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 35,874,575
GRCh38 5 35,874,473
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_74:g.22585C>T
NC_000005.10:g.35874473C>T
NC_000005.9:g.35874575C>T
NP_002176.2:p.Thr244Ile
More... 		01/23/2024 intron variant|missense variant benign|not provided AllHighlyPenetrant; none provided; SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE; Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, IL7R-Related; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
Disease Annotations     Click to see Annotation Detail View

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
GCST004145 Primary biliary cholangitis 1,381 Japanese ancestry cases, 1,505 Japanese ancestry controls T 0.195130086724483 6E-9 8.221848749616356 Affymetrix [425290] 1.5187576 primary biliary cirrhosis (EFO:1001486)
 PMID:28062665
GCST001198 Multiple sclerosis 9,772 European ancestry cases, 16,849 European ancestry controls G NR 2E-8 7.698970004336019 Illumina [465434] 1.11 PMID:21833088
GCST000424 Multiple sclerosis 2,624 European ancestry cases, 7,220 European ancestry controls C 0.75 0.000002 5.698970004336019 Affymetrix, Illumina [~ 2560000] (imputed) 1.12 PMID:19525953
GCST000062 Multiple sclerosis 931 European ancestry trios, 2,431 European ancestry controls C 0.75 3E-7 6.522878745280337 Affymetrix [334923] 1.18 PMID:17660530
GCST000038 Type 1 diabetes 2,000 European ancestry cases, 3,000 European ancestry controls G 0.71 0.000008 5.096910013008056 Affymetrix [NR] 1.12 PMID:17554260
GCST90315117 ICAM2/IL7R protein level ratio 43,509 European ancestry individuals ? NR 3E-3651 3650.52287874528 Affymetrix [509492] 0.909583 blood protein measurement (EFO:0007937)
 PMID:38412862

Variant Details
Variant Transcripts
Gene Symbol:IL7R
Accession:NM_002185
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFEDPDVNITNLEFEICGALVEV
KCLNFRKLQEIYFIETKKFLLIGKSNICVKVGEKSLTCKKIDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYV
KVLMHDVAYRQEKDENKWTHVNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGEMDP
ILLIISILSFFSVALLVILACVLWKKRIKPIVWPSLPDHKKTLEHLCKKPRKNLNVSFNPESFLDCQIHRVDDIQARDEV
EGFLQDTFPQQLEESEKQRLGGDVQSPNCPSEDVVITPESFGRDSSLTCLAGNVSACDAPILSSSRSLDCRESGKNGPHV
YQDLLLSLGTTNSTLPPPFSLQSGILTLNPVAQGQPILTSLGSNQEEAYVTMSSFYQNQ*

Gene Symbol:IL7R
Accession:XM_047417149
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTILGTTFGMVFSLLQVVSGESGYAQNGDLEDAELDDYSFSCYSQLEVNGSQHSLTCAFEDPDVNITNLEFEICGALVEV
KCLNFRKLQEIYFIETKKFLLIGKSNICVKVGEKSLTCKKIDLTTIVKPEAPFDLSVVYREGANDFVVTFNTSHLQKKYV
KVLMHDVAYRQEKDENKWTHVNLSSTKLTLLQRKLQPAAMYEIKVRSIPDHYFKGFWSEWSPSYYFRTPEINNSSGEMDP
ILLIISILSFFSVALLVILACVLWKKKD*

Gene Symbol:IL7R
Accession:NM_001410734
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:IL7R
Accession:XM_047417150
Location:INTRON

Gene Symbol:IL7R
Accession:NR_120485
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:24728327   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000121219 CLINVAR
  RCV000267316 CLINVAR
  RCV001636680 CLINVAR
dbSNP (RS) rs6897932 CLINVAR
GWAS Catalog GCST004145 GWAS Catalog
MedGen C3661900 CLINVAR
  C5676890 CLINVAR
  CN169374 CLINVAR
NCBI Gene IL7R CLINVAR
OMIM 146661 CLINVAR
  608971 CLINVAR