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rs387906254

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906254(-;-)
Make rs387906254(-;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position19656415
GeneALDH3A2
is asnp
is mentioned by
dbSNPrs387906254
dbSNP (classic)rs387906254
ClinGenrs387906254
ebirs387906254
HLIrs387906254
Exacrs387906254
Gnomadrs387906254
Varsomers387906254
LitVarrs387906254
Maprs387906254
PheGenIrs387906254
Biobankrs387906254
1000 genomesrs387906254
hgdprs387906254
ensemblrs387906254
geneviewrs387906254
scholarrs387906254
googlers387906254
pharmgkbrs387906254
gwascentralrs387906254
openSNPrs387906254
23andMers387906254
SNPshotrs387906254
SNPdbers387906254
MSV3drs387906254
GWAS Ctlgrs387906254
Max Magnitude0
ClinVar
Risk rs387906254(-;-)
Alt rs387906254(-;-)
Reference Rs387906254(T;T)
Significance Pathogenic
Disease Sjögren-Larsson syndrome
Variation info
Gene ALDH3A2
CLNDBN Sjögren-Larsson syndrome
Reversed 0
HGVS NC_000017.10:g.19559728delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000001703.3,