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rs78931658

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs78931658(C;G)
Make rs78931658(G;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position100892640
GeneALDH1A3, LOC101927751
is asnp
is mentioned by
dbSNPrs78931658
dbSNP (classic)rs78931658
ClinGenrs78931658
ebirs78931658
HLIrs78931658
Exacrs78931658
Gnomadrs78931658
Varsomers78931658
LitVarrs78931658
Maprs78931658
PheGenIrs78931658
Biobankrs78931658
1000 genomesrs78931658
hgdprs78931658
ensemblrs78931658
geneviewrs78931658
scholarrs78931658
googlers78931658
pharmgkbrs78931658
gwascentralrs78931658
openSNPrs78931658
23andMers78931658
SNPshotrs78931658
SNPdbers78931658
MSV3drs78931658
GWAS Ctlgrs78931658
Max Magnitude0
ClinVar
Risk rs78931658(A;A) rs78931658(G;G) rs78931658(T;T)
Alt rs78931658(A;A) rs78931658(G;G) rs78931658(T;T)
Reference Rs78931658(C;C)
Significance Pathogenic
Disease Microphthalmia
Variation info
Gene LOC101927751 ALDH1A3
CLNDBN Microphthalmia, isolated 8
Reversed 1
HGVS NC_000015.9:g.101432845G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033223.5,