rs118204007

Orientation

minus

Stabilized

minus

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

Make rs118204007(C;G)

Make rs118204007(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

57764755

Gene

CYP27B1

is a	snp
is	mentioned by
dbSNP	rs118204007
dbSNP (classic)	rs118204007
ClinGen	rs118204007
ebi	rs118204007
HLI	rs118204007
Exac	rs118204007
Gnomad	rs118204007
Varsome	rs118204007
LitVar	rs118204007
Map	rs118204007
PheGenI	rs118204007
Biobank	rs118204007
1000 genomes	rs118204007
hgdp	rs118204007
ensembl	rs118204007
geneview	rs118204007
scholar	rs118204007
google	rs118204007
pharmgkb	rs118204007
gwascentral	rs118204007
openSNP	rs118204007
23andMe	rs118204007
SNPshot	rs118204007
SNPdbe	rs118204007
MSV3d	rs118204007
GWAS Ctlg	rs118204007

Max Magnitude

0

OMIM	609506
Desc
Variant	0009
Related	also

ClinVar
Risk	rs118204007(G;G)
Alt	rs118204007(G;G)
Reference	Rs118204007(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.58158538G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001733.3,