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rs104893676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893676(A;A)
Make rs104893676(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position43691011
GeneABHD5
is asnp
is mentioned by
dbSNPrs104893676
ebirs104893676
HLIrs104893676
Exacrs104893676
Varsomers104893676
Maprs104893676
PheGenIrs104893676
hapmaprs104893676
1000 genomesrs104893676
hgdprs104893676
ensemblrs104893676
gopubmedrs104893676
geneviewrs104893676
scholarrs104893676
googlers104893676
pharmgkbrs104893676
gwascentralrs104893676
openSNPrs104893676
23andMers104893676
23andMe allrs104893676
SNP Nexus

SNPshotrs104893676
SNPdbers104893676
MSV3drs104893676
GWAS Ctlgrs104893676
GMAF0.002296
Max Magnitude0
OMIM604780
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104893676(A;A)
Alt rs104893676(A;A)
Reference rs104893676(G;G)
Significance Pathogenic
Disease Triglyceride storage disease with ichthyosis
Variation info
Gene ABHD5
CLNDBN Triglyceride storage disease with ichthyosis
Reversed 0
HGVS NC_000003.11:g.43732503G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005680.2,