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rs387906336

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(GA;GA) 0 common in clinvar
Make rs387906336(-;-)
Make rs387906336(-;AG)
ReferenceGRCh38 38.1/141
Chromosome3
Position43691038
GeneABHD5
is asnp
is mentioned by
dbSNPrs387906336
ebirs387906336
HLIrs387906336
Exacrs387906336
Varsomers387906336
Maprs387906336
PheGenIrs387906336
hapmaprs387906336
1000 genomesrs387906336
hgdprs387906336
ensemblrs387906336
gopubmedrs387906336
geneviewrs387906336
scholarrs387906336
googlers387906336
pharmgkbrs387906336
gwascentralrs387906336
openSNPrs387906336
23andMers387906336
23andMe allrs387906336
SNP Nexus

SNPshotrs387906336
SNPdbers387906336
MSV3drs387906336
GWAS Ctlgrs387906336
Max Magnitude0
ClinVar
Risk rs387906336(;)
Alt rs387906336(;)
Reference rs387906336(GA;GA)
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.43732530_43732531delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005683.2,