rs118204012

Orientation

minus

Stabilized

minus

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

Make rs118204012(A;G)

Make rs118204012(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

57765320

Gene

CYP27B1

is a	snp
is	mentioned by
dbSNP	rs118204012
dbSNP (classic)	rs118204012
ClinGen	rs118204012
ebi	rs118204012
HLI	rs118204012
Exac	rs118204012
Gnomad	rs118204012
Varsome	rs118204012
LitVar	rs118204012
Map	rs118204012
PheGenI	rs118204012
Biobank	rs118204012
1000 genomes	rs118204012
hgdp	rs118204012
ensembl	rs118204012
geneview	rs118204012
scholar	rs118204012
google	rs118204012
pharmgkb	rs118204012
gwascentral	rs118204012
openSNP	rs118204012
23andMe	rs118204012
SNPshot	rs118204012
SNPdbe	rs118204012
MSV3d	rs118204012
GWAS Ctlg	rs118204012

Max Magnitude

0

OMIM	609506
Desc
Variant	0017
Related	also

ClinVar
Risk	rs118204012(G;G)
Alt	rs118204012(G;G)
Reference	Rs118204012(A;A)
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.58159103T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001741.4,