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rs397514653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514653(C;C)
Make rs397514653(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position100914711
GeneALDH1A3
is asnp
is mentioned by
dbSNPrs397514653
ebirs397514653
HLIrs397514653
Exacrs397514653
Varsomers397514653
Maprs397514653
PheGenIrs397514653
hapmaprs397514653
1000 genomesrs397514653
hgdprs397514653
ensemblrs397514653
gopubmedrs397514653
geneviewrs397514653
scholarrs397514653
googlers397514653
pharmgkbrs397514653
gwascentralrs397514653
openSNPrs397514653
23andMers397514653
23andMe allrs397514653
SNP Nexus

SNPshotrs397514653
SNPdbers397514653
MSV3drs397514653
GWAS Ctlgrs397514653
Max Magnitude0
ClinVar
Risk rs397514653(A,C;A,C)
Alt rs397514653(A,C;A,C)
Reference rs397514653(G;G)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene ALDH1A3
CLNDBN Microphthalmia, isolated 8
Reversed 0
HGVS NC_000015.9:g.101454916G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000033222.3,