rs121908249

Orientation

plus

Stabilized

plus

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

Make rs121908249(A;C)

Make rs121908249(C;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

131890435

Gene

ENPP1

is a	snp
is	mentioned by
dbSNP	rs121908249
dbSNP (classic)	rs121908249
ClinGen	rs121908249
ebi	rs121908249
HLI	rs121908249
Exac	rs121908249
Gnomad	rs121908249
Varsome	rs121908249
LitVar	rs121908249
Map	rs121908249
PheGenI	rs121908249
Biobank	rs121908249
1000 genomes	rs121908249
hgdp	rs121908249
ensembl	rs121908249
geneview	rs121908249
scholar	rs121908249
google	rs121908249
pharmgkb	rs121908249
gwascentral	rs121908249
openSNP	rs121908249
23andMe	rs121908249
SNPshot	rs121908249
SNPdbe	rs121908249
MSV3d	rs121908249
GWAS Ctlg	rs121908249

Max Magnitude

0

OMIM	173335
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121908249(C;C) rs121908249(G;G)
Alt	rs121908249(C;C) rs121908249(G;G)
Reference	Rs121908249(A;A)
Significance	Pathogenic
Disease	Hypophosphatemic rickets
Variation	info
Gene	ENPP1
CLNDBN	Hypophosphatemic rickets, autosomal recessive, 2
Reversed	0
HGVS	NC_000006.11:g.132211575A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000014566.28,

[PMID 20137772] Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.