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rs118203961

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203961(C;T)
Make rs118203961(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position74196145
GeneSTRA6
is asnp
is mentioned by
dbSNPrs118203961
dbSNP (classic)rs118203961
ClinGenrs118203961
ebirs118203961
HLIrs118203961
Exacrs118203961
Gnomadrs118203961
Varsomers118203961
LitVarrs118203961
Maprs118203961
PheGenIrs118203961
Biobankrs118203961
1000 genomesrs118203961
hgdprs118203961
ensemblrs118203961
geneviewrs118203961
scholarrs118203961
googlers118203961
pharmgkbrs118203961
gwascentralrs118203961
openSNPrs118203961
23andMers118203961
SNPshotrs118203961
SNPdbers118203961
MSV3drs118203961
GWAS Ctlgrs118203961
Max Magnitude0
OMIM610745
Desc
Variant0005
Relatedalso
ClinVar
Risk rs118203961(T;T)
Alt rs118203961(T;T)
Reference Rs118203961(C;C)
Significance Pathogenic
Disease Microphthalmia syndromic 9
Variation info
Gene STRA6
CLNDBN Microphthalmia syndromic 9
Reversed 1
HGVS NC_000015.9:g.74488486G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001196.2,