rs374270497

Orientation

plus

Stabilized

plus

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

Make rs374270497(A;A)

Make rs374270497(A;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

131860504

Gene

ENPP1

is a	snp
is	mentioned by
dbSNP	rs374270497
dbSNP (classic)	rs374270497
ClinGen	rs374270497
ebi	rs374270497
HLI	rs374270497
Exac	rs374270497
Gnomad	rs374270497
Varsome	rs374270497
LitVar	rs374270497
Map	rs374270497
PheGenI	rs374270497
Biobank	rs374270497
1000 genomes	rs374270497
hgdp	rs374270497
ensembl	rs374270497
geneview	rs374270497
scholar	rs374270497
google	rs374270497
pharmgkb	rs374270497
gwascentral	rs374270497
openSNP	rs374270497
23andMe	rs374270497
SNPshot	rs374270497
SNPdbe	rs374270497
MSV3d	rs374270497
GWAS Ctlg	rs374270497

Max Magnitude

0

ClinVar
Risk	rs374270497(A;A) rs374270497(T;T)
Alt	rs374270497(A;A) rs374270497(T;T)
Reference	Rs374270497(C;C)
Significance	Pathogenic
Disease	Arterial calcification of infancy Hypophosphatemic Rickets not provided
Variation	info
Gene	ENPP1
CLNDBN	Arterial calcification of infancy Hypophosphatemic Rickets, Recessive not provided
Reversed	0
HGVS	NC_000006.11:g.132181644C>A; NC_000006.11:g.132181644C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022720.26, RCV000266886.1, RCV000481485.1,