rs118204008

Orientation

minus

Stabilized

minus

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

Make rs118204008(C;T)

Make rs118204008(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

57763798

Gene

CYP27B1

is a	snp
is	mentioned by
dbSNP	rs118204008
dbSNP (classic)	rs118204008
ClinGen	rs118204008
ebi	rs118204008
HLI	rs118204008
Exac	rs118204008
Gnomad	rs118204008
Varsome	rs118204008
LitVar	rs118204008
Map	rs118204008
PheGenI	rs118204008
Biobank	rs118204008
1000 genomes	rs118204008
hgdp	rs118204008
ensembl	rs118204008
geneview	rs118204008
scholar	rs118204008
google	rs118204008
pharmgkb	rs118204008
gwascentral	rs118204008
openSNP	rs118204008
23andMe	rs118204008
SNPshot	rs118204008
SNPdbe	rs118204008
MSV3d	rs118204008
GWAS Ctlg	rs118204008

Max Magnitude

0

OMIM	609506
Desc
Variant	0011
Related	also

ClinVar
Risk	rs118204008(T;T)
Alt	rs118204008(T;T)
Reference	Rs118204008(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.58157581G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001735.3,