rs121908248

plus

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

Make rs121908248(G;T)

Make rs121908248(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

131860388

Gene

ENPP1

is a	snp
is	mentioned by
dbSNP	rs121908248
dbSNP (classic)	rs121908248
ClinGen	rs121908248
ebi	rs121908248
HLI	rs121908248
Exac	rs121908248
Gnomad	rs121908248
Varsome	rs121908248
LitVar	rs121908248
Map	rs121908248
PheGenI	rs121908248
Biobank	rs121908248
1000 genomes	rs121908248
hgdp	rs121908248
ensembl	rs121908248
geneview	rs121908248
scholar	rs121908248
google	rs121908248
pharmgkb	rs121908248
gwascentral	rs121908248
openSNP	rs121908248
23andMe	rs121908248
SNPshot	rs121908248
SNPdbe	rs121908248
MSV3d	rs121908248
GWAS Ctlg	rs121908248

Max Magnitude

0

OMIM	173335
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121908248(T;T)
Alt	rs121908248(T;T)
Reference	Rs121908248(G;G)
Significance	Pathogenic
Disease	Hypophosphatemic rickets Arterial calcification of infancy
Variation	info
Gene	ENPP1
CLNDBN	Hypophosphatemic rickets, autosomal recessive, 2 Arterial calcification of infancy
Reversed	0
HGVS	NC_000006.11:g.132181528G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000014563.22, RCV000014564.21,

[PMID 20137773 ] Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.