rs1057516293

Orientation

plus

Stabilized

plus

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

Make rs1057516293(C;T)

Make rs1057516293(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

21560694

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs1057516293
dbSNP (classic)	rs1057516293
ClinGen	rs1057516293
ebi	rs1057516293
HLI	rs1057516293
Exac	rs1057516293
Gnomad	rs1057516293
Varsome	rs1057516293
LitVar	rs1057516293
Map	rs1057516293
PheGenI	rs1057516293
Biobank	rs1057516293
1000 genomes	rs1057516293
hgdp	rs1057516293
ensembl	rs1057516293
geneview	rs1057516293
scholar	rs1057516293
google	rs1057516293
pharmgkb	rs1057516293
gwascentral	rs1057516293
openSNP	rs1057516293
23andMe	rs1057516293
SNPshot	rs1057516293
SNPdbe	rs1057516293
MSV3d	rs1057516293
GWAS Ctlg	rs1057516293

Max Magnitude

0

ClinVar
Risk	rs1057516293(T;T)
Alt	rs1057516293(T;T)
Reference	Rs1057516293(C;C)
Significance	Probable-Pathogenic
Disease	Infantile hypophosphatasia
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia
Reversed	0
HGVS	NC_000001.10:g.21887187C>T
CLNSRC
CLNACC	RCV000408970.1,