rs118204011

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs118204011(C;T)

Make rs118204011(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

57764487

Gene

CYP27B1

is a	snp
is	mentioned by
dbSNP	rs118204011
dbSNP (classic)	rs118204011
ClinGen	rs118204011
ebi	rs118204011
HLI	rs118204011
Exac	rs118204011
Gnomad	rs118204011
Varsome	rs118204011
LitVar	rs118204011
Map	rs118204011
PheGenI	rs118204011
Biobank	rs118204011
1000 genomes	rs118204011
hgdp	rs118204011
ensembl	rs118204011
geneview	rs118204011
scholar	rs118204011
google	rs118204011
pharmgkb	rs118204011
gwascentral	rs118204011
openSNP	rs118204011
23andMe	rs118204011
SNPshot	rs118204011
SNPdbe	rs118204011
MSV3d	rs118204011
GWAS Ctlg	rs118204011

Max Magnitude

0

OMIM	609506
Desc
Variant	0016
Related	also

ClinVar
Risk	rs118204011(T;T)
Alt	rs118204011(T;T)
Reference	Rs118204011(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.58158270G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001740.4,