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rs72547564

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72547564(A;A)
Make rs72547564(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position19656535
GeneALDH3A2
is asnp
is mentioned by
dbSNPrs72547564
dbSNP (classic)rs72547564
ClinGenrs72547564
ebirs72547564
HLIrs72547564
Exacrs72547564
Gnomadrs72547564
Varsomers72547564
LitVarrs72547564
Maprs72547564
PheGenIrs72547564
Biobankrs72547564
1000 genomesrs72547564
hgdprs72547564
ensemblrs72547564
geneviewrs72547564
scholarrs72547564
googlers72547564
pharmgkbrs72547564
gwascentralrs72547564
openSNPrs72547564
23andMers72547564
SNPshotrs72547564
SNPdbers72547564
MSV3drs72547564
GWAS Ctlgrs72547564
Max Magnitude0
OMIM609523
Desc
Variant0004
Relatedalso


ClinVar
Risk rs72547564(A;A)
Alt rs72547564(A;A)
Reference Rs72547564(G;G)
Significance Pathogenic
Disease Sjögren-Larsson syndrome
Variation info
Gene ALDH3A2
CLNDBN Sjögren-Larsson syndrome
Reversed 0
HGVS NC_000017.10:g.19559848G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001706.4,