rs118204010

Orientation

minus

Stabilized

minus

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

Make rs118204010(C;G)

Make rs118204010(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

57764148

Gene

CYP27B1

is a	snp
is	mentioned by
dbSNP	rs118204010
dbSNP (classic)	rs118204010
ClinGen	rs118204010
ebi	rs118204010
HLI	rs118204010
Exac	rs118204010
Gnomad	rs118204010
Varsome	rs118204010
LitVar	rs118204010
Map	rs118204010
PheGenI	rs118204010
Biobank	rs118204010
1000 genomes	rs118204010
hgdp	rs118204010
ensembl	rs118204010
geneview	rs118204010
scholar	rs118204010
google	rs118204010
pharmgkb	rs118204010
gwascentral	rs118204010
openSNP	rs118204010
23andMe	rs118204010
SNPshot	rs118204010
SNPdbe	rs118204010
MSV3d	rs118204010
GWAS Ctlg	rs118204010

Max Magnitude

0

OMIM	609506
Desc
Variant	0015
Related	also

ClinVar
Risk	rs118204010(G;G) rs118204010(T;T)
Alt	rs118204010(G;G) rs118204010(T;T)
Reference	Rs118204010(C;C)
Significance	Pathogenic
Disease	Vitamin D-dependent rickets
Variation	info
Gene	CYP27B1
CLNDBN	Vitamin D-dependent rickets, type 1
Reversed	1
HGVS	NC_000012.11:g.58157931G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001739.3,