rs72554620

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs72554620(C;T)

Make rs72554620(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

64604753

Gene

CYP7B1

is a	snp
is	mentioned by
dbSNP	rs72554620
dbSNP (classic)	rs72554620
ClinGen	rs72554620
ebi	rs72554620
HLI	rs72554620
Exac	rs72554620
Gnomad	rs72554620
Varsome	rs72554620
LitVar	rs72554620
Map	rs72554620
PheGenI	rs72554620
Biobank	rs72554620
1000 genomes	rs72554620
hgdp	rs72554620
ensembl	rs72554620
geneview	rs72554620
scholar	rs72554620
google	rs72554620
pharmgkb	rs72554620
gwascentral	rs72554620
openSNP	rs72554620
23andMe	rs72554620
SNPshot	rs72554620
SNPdbe	rs72554620
MSV3d	rs72554620
GWAS Ctlg	rs72554620

Max Magnitude

0

OMIM	603711
Desc
Variant	0001
Related	also

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	RCV000006473.3, RCV000006474.3,