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rs72554620

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72554620(C;T)
Make rs72554620(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position64604753
GeneCYP7B1
is asnp
is mentioned by
dbSNPrs72554620
ebirs72554620
HLIrs72554620
Exacrs72554620
Varsomers72554620
Maprs72554620
PheGenIrs72554620
hapmaprs72554620
1000 genomesrs72554620
hgdprs72554620
ensemblrs72554620
gopubmedrs72554620
geneviewrs72554620
scholarrs72554620
googlers72554620
pharmgkbrs72554620
gwascentralrs72554620
openSNPrs72554620
23andMers72554620
23andMe allrs72554620
SNP Nexus

SNPshotrs72554620
SNPdbers72554620
MSV3drs72554620
GWAS Ctlgrs72554620
Max Magnitude0
OMIM603711
Desc
Variant0001
Relatedalso


ClinVar
Risk rs72554620(T;T)
Alt rs72554620(T;T)
Reference rs72554620(C;C)
Significance Pathogenic
Disease Bile acid synthesis defect Spastic paraplegia 5A
Variation info
Gene CYP7B1
CLNDBN Bile acid synthesis defect, congenital, 3 Spastic paraplegia 5A
Reversed 1
HGVS NC_000008.10:g.65517310G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006473.2, RCV000006474.2,