rs780950819

Orientation

plus

Stabilized

plus

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

Make rs780950819(-;GGGTGGG)

Make rs780950819(GGGTGGG;GGGTGGG)

Reference

GRCh38.p7 38.3/149

Chromosome

12

Position

57763698

Gene

CYP27B1

is a	snp
is	mentioned by
dbSNP	rs780950819
dbSNP (classic)	rs780950819
ClinGen	rs780950819
ebi	rs780950819
HLI	rs780950819
Exac	rs780950819
Gnomad	rs780950819
Varsome	rs780950819
LitVar	rs780950819
Map	rs780950819
PheGenI	rs780950819
Biobank	rs780950819
1000 genomes	rs780950819
hgdp	rs780950819
ensembl	rs780950819
geneview	rs780950819
scholar	rs780950819
google	rs780950819
pharmgkb	rs780950819
gwascentral	rs780950819
openSNP	rs780950819
23andMe	rs780950819
SNPshot	rs780950819
SNPdbe	rs780950819
MSV3d	rs780950819
GWAS Ctlg	rs780950819

Max Magnitude

0

ClinVar
Risk	rs780950819(GGGTGGG;GGGTGGG)
Alt	rs780950819(GGGTGGG;GGGTGGG)
Reference	Rs780950819(-;-)
Significance	Pathogenic
Disease	Vitamin D-dependent rickets not provided
Variation	info
Gene	CYP27B1
CLNDBN	Vitamin D-dependent rickets, type 1 not provided
Reversed	0
HGVS	NC_000012.11:g.58157482_58157488dupGGGTGGG
CLNSRC
CLNACC	RCV000258015.1, RCV000271425.1,