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rs72547562

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72547562(C;T)
Make rs72547562(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position19656445
GeneALDH3A2
is asnp
is mentioned by
dbSNPrs72547562
dbSNP (classic)rs72547562
ClinGenrs72547562
ebirs72547562
HLIrs72547562
Exacrs72547562
Gnomadrs72547562
Varsomers72547562
LitVarrs72547562
Maprs72547562
PheGenIrs72547562
Biobankrs72547562
1000 genomesrs72547562
hgdprs72547562
ensemblrs72547562
geneviewrs72547562
scholarrs72547562
googlers72547562
pharmgkbrs72547562
gwascentralrs72547562
openSNPrs72547562
23andMers72547562
SNPshotrs72547562
SNPdbers72547562
MSV3drs72547562
GWAS Ctlgrs72547562
Max Magnitude0
ClinVar
Risk rs72547562(T;T)
Alt rs72547562(T;T)
Reference Rs72547562(C;C)
Significance Pathogenic
Disease Sjögren-Larsson syndrome not provided
Variation info
Gene ALDH3A2
CLNDBN Sjögren-Larsson syndrome not provided
Reversed 0
HGVS NC_000017.10:g.19559758C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000169091.1, RCV000427449.1,