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rs387906335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387906335(-;-)
Make rs387906335(-;C)
Make rs387906335(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position43711796
GeneABHD5
is asnp
is mentioned by
dbSNPrs387906335
ebirs387906335
HLIrs387906335
Exacrs387906335
Varsomers387906335
Maprs387906335
PheGenIrs387906335
hapmaprs387906335
1000 genomesrs387906335
hgdprs387906335
ensemblrs387906335
gopubmedrs387906335
geneviewrs387906335
scholarrs387906335
googlers387906335
pharmgkbrs387906335
gwascentralrs387906335
openSNPrs387906335
23andMers387906335
23andMe allrs387906335
SNP Nexus

SNPshotrs387906335
SNPdbers387906335
MSV3drs387906335
GWAS Ctlgrs387906335
Max Magnitude0
ClinVar
Risk rs387906335(C;C)
Alt rs387906335(C;C)
Reference rs387906335(;)
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.43753288dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000005681.2,