Have questions? Visit https://www.reddit.com/r/SNPedia

rs72547569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72547569(C;C)
Make rs72547569(C;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position19657862
GeneALDH3A2
is asnp
is mentioned by
dbSNPrs72547569
dbSNP (classic)rs72547569
ClinGenrs72547569
ebirs72547569
HLIrs72547569
Exacrs72547569
Gnomadrs72547569
Varsomers72547569
LitVarrs72547569
Maprs72547569
PheGenIrs72547569
Biobankrs72547569
1000 genomesrs72547569
hgdprs72547569
ensemblrs72547569
geneviewrs72547569
scholarrs72547569
googlers72547569
pharmgkbrs72547569
gwascentralrs72547569
openSNPrs72547569
23andMers72547569
SNPshotrs72547569
SNPdbers72547569
MSV3drs72547569
GWAS Ctlgrs72547569
Max Magnitude0
OMIM609523
Desc
Variant0008
Relatedalso
ClinVar
Risk rs72547569(C;C)
Alt rs72547569(C;C)
Reference Rs72547569(G;G)
Significance Pathogenic
Disease Sjögren-Larsson syndrome not provided
Variation info
Gene ALDH3A2
CLNDBN Sjögren-Larsson syndrome not provided
Reversed 0
HGVS NC_000017.10:g.19561175G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001710.3, RCV000414702.1,