rs759208930

Orientation

plus

Stabilized

plus

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

Make rs759208930(C;T)

Make rs759208930(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

12

Position

57763666

Gene

CYP27B1

is a	snp
is	mentioned by
dbSNP	rs759208930
dbSNP (classic)	rs759208930
ClinGen	rs759208930
ebi	rs759208930
HLI	rs759208930
Exac	rs759208930
Gnomad	rs759208930
Varsome	rs759208930
LitVar	rs759208930
Map	rs759208930
PheGenI	rs759208930
Biobank	rs759208930
1000 genomes	rs759208930
hgdp	rs759208930
ensembl	rs759208930
geneview	rs759208930
scholar	rs759208930
google	rs759208930
pharmgkb	rs759208930
gwascentral	rs759208930
openSNP	rs759208930
23andMe	rs759208930
SNPshot	rs759208930
SNPdbe	rs759208930
MSV3d	rs759208930
GWAS Ctlg	rs759208930

Max Magnitude

0

ClinVar
Risk	rs759208930(T;T)
Alt	rs759208930(T;T)
Reference	Rs759208930(C;C)
Significance	Pathogenic
Disease	Vitamin D-dependent rickets
Variation	info
Gene	CYP27B1
CLNDBN	Vitamin D-dependent rickets, type 1
Reversed	0
HGVS	NC_000012.11:g.58157449C>T
CLNSRC
CLNACC	RCV000258015.1,