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rs118203960

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203960(C;T)
Make rs118203960(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position74180153
GeneSTRA6
is asnp
is mentioned by
dbSNPrs118203960
dbSNP (classic)rs118203960
ClinGenrs118203960
ebirs118203960
HLIrs118203960
Exacrs118203960
Gnomadrs118203960
Varsomers118203960
LitVarrs118203960
Maprs118203960
PheGenIrs118203960
Biobankrs118203960
1000 genomesrs118203960
hgdprs118203960
ensemblrs118203960
geneviewrs118203960
scholarrs118203960
googlers118203960
pharmgkbrs118203960
gwascentralrs118203960
openSNPrs118203960
23andMers118203960
SNPshotrs118203960
SNPdbers118203960
MSV3drs118203960
GWAS Ctlgrs118203960
Max Magnitude0
OMIM610745
Desc
Variant0004
Relatedalso
ClinVar
Risk rs118203960(T;T)
Alt rs118203960(T;T)
Reference Rs118203960(C;C)
Significance Pathogenic
Disease Microphthalmia syndromic 9
Variation info
Gene STRA6
CLNDBN Microphthalmia syndromic 9
Reversed 1
HGVS NC_000015.9:g.74472494G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001195.2,