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rs28939077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28939077(A;C)
Make rs28939077(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position43702470
GeneABHD5
is asnp
is mentioned by
dbSNPrs28939077
ebirs28939077
HLIrs28939077
Exacrs28939077
Varsomers28939077
Maprs28939077
PheGenIrs28939077
hapmaprs28939077
1000 genomesrs28939077
hgdprs28939077
ensemblrs28939077
gopubmedrs28939077
geneviewrs28939077
scholarrs28939077
googlers28939077
pharmgkbrs28939077
gwascentralrs28939077
openSNPrs28939077
23andMers28939077
23andMe allrs28939077
SNP Nexus

SNPshotrs28939077
SNPdbers28939077
MSV3drs28939077
GWAS Ctlgrs28939077
Max Magnitude0
OMIM604780
DescTRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID
Variant0004
Relatedalso


ClinVar
Risk rs28939077(C;C)
Alt rs28939077(C;C)
Reference rs28939077(A;A)
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.43743962A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005679.2,