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rs118203959

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203959(C;T)
Make rs118203959(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position74180121
GeneSTRA6
is asnp
is mentioned by
dbSNPrs118203959
dbSNP (classic)rs118203959
ClinGenrs118203959
ebirs118203959
HLIrs118203959
Exacrs118203959
Gnomadrs118203959
Varsomers118203959
LitVarrs118203959
Maprs118203959
PheGenIrs118203959
Biobankrs118203959
1000 genomesrs118203959
hgdprs118203959
ensemblrs118203959
geneviewrs118203959
scholarrs118203959
googlers118203959
pharmgkbrs118203959
gwascentralrs118203959
openSNPrs118203959
23andMers118203959
SNPshotrs118203959
SNPdbers118203959
MSV3drs118203959
GWAS Ctlgrs118203959
Max Magnitude0
OMIM610745
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118203959(T;T)
Alt rs118203959(T;T)
Reference Rs118203959(C;C)
Significance Pathogenic
Disease Microphthalmia syndromic 9
Variation info
Gene STRA6
CLNDBN Microphthalmia syndromic 9
Reversed 1
HGVS NC_000015.9:g.74472462G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001194.2,