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rs28939078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28939078(A;A)
Make rs28939078(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position43717675
GeneABHD5
is asnp
is mentioned by
dbSNPrs28939078
ebirs28939078
HLIrs28939078
Exacrs28939078
Varsomers28939078
Maprs28939078
PheGenIrs28939078
hapmaprs28939078
1000 genomesrs28939078
hgdprs28939078
ensemblrs28939078
gopubmedrs28939078
geneviewrs28939078
scholarrs28939078
googlers28939078
pharmgkbrs28939078
gwascentralrs28939078
openSNPrs28939078
23andMers28939078
23andMe allrs28939078
SNP Nexus

SNPshotrs28939078
SNPdbers28939078
MSV3drs28939078
GWAS Ctlgrs28939078
Max Magnitude0
OMIM604780
DescTRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID
Variant0007
Relatedalso
ClinVar
Risk rs28939078(A;A)
Alt rs28939078(A;A)
Reference rs28939078(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.43759167G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005682.2,