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rs104893675

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893675(C;G)
Make rs104893675(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position43699326
GeneABHD5
is asnp
is mentioned by
dbSNPrs104893675
ebirs104893675
HLIrs104893675
Exacrs104893675
Varsomers104893675
Maprs104893675
PheGenIrs104893675
hapmaprs104893675
1000 genomesrs104893675
hgdprs104893675
ensemblrs104893675
gopubmedrs104893675
geneviewrs104893675
scholarrs104893675
googlers104893675
pharmgkbrs104893675
gwascentralrs104893675
openSNPrs104893675
23andMers104893675
23andMe allrs104893675
SNP Nexus

SNPshotrs104893675
SNPdbers104893675
MSV3drs104893675
GWAS Ctlgrs104893675
Max Magnitude0
OMIM604780
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104893675(G;G)
Alt rs104893675(G;G)
Reference rs104893675(C;C)
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.43740818C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005677.2,