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rs786204759

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCT;GCT) 0 common in clinvar
Make rs786204759(CC;CC)
Make rs786204759(CC;GCT)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position19661229
GeneALDH3A2
is asnp
is mentioned by
dbSNPrs786204759
dbSNP (classic)rs786204759
ClinGenrs786204759
ebirs786204759
HLIrs786204759
Exacrs786204759
Gnomadrs786204759
Varsomers786204759
LitVarrs786204759
Maprs786204759
PheGenIrs786204759
Biobankrs786204759
1000 genomesrs786204759
hgdprs786204759
ensemblrs786204759
geneviewrs786204759
scholarrs786204759
googlers786204759
pharmgkbrs786204759
gwascentralrs786204759
openSNPrs786204759
23andMers786204759
SNPshotrs786204759
SNPdbers786204759
MSV3drs786204759
GWAS Ctlgrs786204759
Max Magnitude0
ClinVar
Risk rs786204759(CC;CC)
Alt rs786204759(CC;CC)
Reference Rs786204759(GCT;GCT)
Significance Probable-Pathogenic
Disease Sjögren-Larsson syndrome
Variation info
Gene ALDH3A2
CLNDBN Sjögren-Larsson syndrome
Reversed 0
HGVS NC_000017.10:g.19564542_19564544delGCTinsCC
CLNSRC
CLNACC RCV000169619.1,