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rs72547554

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72547554(C;G)
Make rs72547554(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position19648999
GeneALDH3A2
is asnp
is mentioned by
dbSNPrs72547554
dbSNP (classic)rs72547554
ClinGenrs72547554
ebirs72547554
HLIrs72547554
Exacrs72547554
Gnomadrs72547554
Varsomers72547554
LitVarrs72547554
Maprs72547554
PheGenIrs72547554
Biobankrs72547554
1000 genomesrs72547554
hgdprs72547554
ensemblrs72547554
geneviewrs72547554
scholarrs72547554
googlers72547554
pharmgkbrs72547554
gwascentralrs72547554
openSNPrs72547554
23andMers72547554
SNPshotrs72547554
SNPdbers72547554
MSV3drs72547554
GWAS Ctlgrs72547554
Max Magnitude0
ClinVar
Risk rs72547554(G;G) rs72547554(T;T)
Alt rs72547554(G;G) rs72547554(T;T)
Reference Rs72547554(C;C)
Significance Probable-Pathogenic
Disease Sjögren-Larsson syndrome
Variation info
Gene ALDH3A2
CLNDBN Sjögren-Larsson syndrome
Reversed 0
HGVS NC_000017.10:g.19552312C>T
CLNSRC
CLNACC RCV000169182.1,