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rs397514652

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514652(C;T)
Make rs397514652(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position100887632
GeneALDH1A3
is asnp
is mentioned by
dbSNPrs397514652
ebirs397514652
HLIrs397514652
Exacrs397514652
Varsomers397514652
Maprs397514652
PheGenIrs397514652
hapmaprs397514652
1000 genomesrs397514652
hgdprs397514652
ensemblrs397514652
gopubmedrs397514652
geneviewrs397514652
scholarrs397514652
googlers397514652
pharmgkbrs397514652
gwascentralrs397514652
openSNPrs397514652
23andMers397514652
23andMe allrs397514652
SNP Nexus

SNPshotrs397514652
SNPdbers397514652
MSV3drs397514652
GWAS Ctlgrs397514652
Max Magnitude0
ClinVar
Risk rs397514652(T;T)
Alt rs397514652(T;T)
Reference rs397514652(C;C)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene ALDH1A3
CLNDBN Microphthalmia, isolated 8
Reversed 0
HGVS NC_000015.9:g.101427837C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033221.3,