Rs104894518

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Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894518(A;A)
Make rs104894518(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position30986612
GeneHSD3B7
is asnp
is mentioned by
dbSNPrs104894518
PheGenIrs104894518
nextbiors104894518
hapmaprs104894518
1000 genomesrs104894518
hgdprs104894518
ensemblrs104894518
gopubmedrs104894518
geneviewrs104894518
scholarrs104894518
googlers104894518
pharmgkbrs104894518
gwascentralrs104894518
openSNPrs104894518
23andMers104894518
23andMe allrs104894518
SNP Nexus

SNPshotrs104894518
SNPdbers104894518
MSV3drs104894518
Max Magnitude0
OMIM607764
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894518(A;A)
Alt rs104894518(A;A)
Reference rs104894518(G;G)
Significance Pathogenic
Disease Bile acid synthesis defect
Variation info
Gene HSD3B7
CLNDBN Bile acid synthesis defect, congenital, 1
Reversed 0
HGVS NC_000016.9:g.30997933G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003018.1,