rs61495246

Orientation

minus

Stabilized

minus

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

Make rs61495246(C;C)

Make rs61495246(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

14885847

Gene

CYP2R1

is a	snp
is	mentioned by
dbSNP	rs61495246
dbSNP (classic)	rs61495246
ClinGen	rs61495246
ebi	rs61495246
HLI	rs61495246
Exac	rs61495246
Gnomad	rs61495246
Varsome	rs61495246
LitVar	rs61495246
Map	rs61495246
PheGenI	rs61495246
Biobank	rs61495246
1000 genomes	rs61495246
hgdp	rs61495246
ensembl	rs61495246
geneview	rs61495246
scholar	rs61495246
google	rs61495246
pharmgkb	rs61495246
gwascentral	rs61495246
openSNP	rs61495246
23andMe	rs61495246
SNPshot	rs61495246
SNPdbe	rs61495246
MSV3d	rs61495246
GWAS Ctlg	rs61495246

GMAF

0.0009183

Max Magnitude

0

OMIM	608713
Desc
Variant	0001
Related	also

ClinVar
Risk	rs61495246(C;C)
Alt	rs61495246(C;C)
Reference	Rs61495246(T;T)
Significance	Pathogenic
Disease	Vitamin d hydroxylation-deficient rickets
Variation	info
Gene	CYP2R1
CLNDBN	Vitamin d hydroxylation-deficient rickets, type 1b
Reversed	1
HGVS	NC_000011.9:g.14907393A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002216.2,