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rs118203962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118203962(A;C)
Make rs118203962(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position74189244
GeneSTRA6
is asnp
is mentioned by
dbSNPrs118203962
ebirs118203962
HLIrs118203962
Exacrs118203962
Varsomers118203962
Maprs118203962
PheGenIrs118203962
hapmaprs118203962
1000 genomesrs118203962
hgdprs118203962
ensemblrs118203962
gopubmedrs118203962
geneviewrs118203962
scholarrs118203962
googlers118203962
pharmgkbrs118203962
gwascentralrs118203962
openSNPrs118203962
23andMers118203962
23andMe allrs118203962
SNP Nexus

SNPshotrs118203962
SNPdbers118203962
MSV3drs118203962
GWAS Ctlgrs118203962
GMAF0.0004591
Max Magnitude0
OMIM610745
Desc
Variant0006
Relatedalso
ClinVar
Risk rs118203962(C;C)
Alt rs118203962(C;C)
Reference rs118203962(A;A)
Significance Pathogenic
Disease Microphthalmia syndromic 9
Variation info
Gene STRA6
CLNDBN Microphthalmia syndromic 9
Reversed 1
HGVS NC_000015.9:g.74481585T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001197.2,