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rs72547575

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72547575(A;G)
Make rs72547575(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position19664997
GeneALDH3A2
is asnp
is mentioned by
dbSNPrs72547575
dbSNP (classic)rs72547575
ClinGenrs72547575
ebirs72547575
HLIrs72547575
Exacrs72547575
Gnomadrs72547575
Varsomers72547575
LitVarrs72547575
Maprs72547575
PheGenIrs72547575
Biobankrs72547575
1000 genomesrs72547575
hgdprs72547575
ensemblrs72547575
geneviewrs72547575
scholarrs72547575
googlers72547575
pharmgkbrs72547575
gwascentralrs72547575
openSNPrs72547575
23andMers72547575
SNPshotrs72547575
SNPdbers72547575
MSV3drs72547575
GWAS Ctlgrs72547575
Max Magnitude0
OMIM609523
Desc
Variant0009
Relatedalso


ClinVar
Risk rs72547575(G;G)
Alt rs72547575(G;G)
Reference Rs72547575(A;A)
Significance Pathogenic
Disease Sjögren-Larsson syndrome
Variation info
Gene ALDH3A2
CLNDBN Sjögren-Larsson syndrome
Reversed 0
HGVS NC_000017.10:g.19568310A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001711.4,