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rs1057516500

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516500(C;C)
Make rs1057516500(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position19664947
GeneALDH3A2
is asnp
is mentioned by
dbSNPrs1057516500
dbSNP (old)rs1057516500
ClinGenrs1057516500
ebirs1057516500
HLIrs1057516500
Exacrs1057516500
Gnomadrs1057516500
Varsomers1057516500
Maprs1057516500
PheGenIrs1057516500
Biobankrs1057516500
1000 genomesrs1057516500
hgdprs1057516500
ensemblrs1057516500
gopubmedrs1057516500
geneviewrs1057516500
scholarrs1057516500
googlers1057516500
pharmgkbrs1057516500
gwascentralrs1057516500
openSNPrs1057516500
23andMers1057516500
23andMe allrs1057516500
SNPshotrs1057516500
SNPdbers1057516500
MSV3drs1057516500
GWAS Ctlgrs1057516500
Max Magnitude0
ClinVar
Risk rs1057516500(C;C) rs1057516500(T;T)
Alt rs1057516500(C;C) rs1057516500(T;T)
Reference Rs1057516500(G;G)
Significance Pathogenic
Disease Sjögren-Larsson syndrome
Variation info
Gene ALDH3A2
CLNDBN Sjögren-Larsson syndrome
Reversed 0
HGVS NC_000017.10:g.19568260G>C; NC_000017.10:g.19568260G>T
CLNSRC
CLNACC RCV000411369.1, RCV000410648.1,