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rs387906257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs387906257(-;ACAAA)
Make rs387906257(ACAAA;ACAAA)
ReferenceGRCh38 38.1/141
Chromosome17
Position19671824
GeneALDH3A2
is asnp
is mentioned by
dbSNPrs387906257
dbSNP (classic)rs387906257
ClinGenrs387906257
ebirs387906257
HLIrs387906257
Exacrs387906257
Gnomadrs387906257
Varsomers387906257
LitVarrs387906257
Maprs387906257
PheGenIrs387906257
Biobankrs387906257
1000 genomesrs387906257
hgdprs387906257
ensemblrs387906257
geneviewrs387906257
scholarrs387906257
googlers387906257
pharmgkbrs387906257
gwascentralrs387906257
openSNPrs387906257
23andMers387906257
SNPshotrs387906257
SNPdbers387906257
MSV3drs387906257
GWAS Ctlgrs387906257
Max Magnitude0
ClinVar
Risk rs387906257(AACAA;AACAA)
Alt rs387906257(AACAA;AACAA)
Reference Rs387906257(-;-)
Significance Pathogenic
Disease Sjögren-Larsson syndrome
Variation info
Gene ALDH3A2
CLNDBN Sjögren-Larsson syndrome
Reversed 0
HGVS NC_000017.10:g.19575133_19575137dupACAAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001709.4,