rs1057516230

Orientation

plus

Stabilized

plus

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

Make rs1057516230(-;-)

Make rs1057516230(-;AACT)

Make rs1057516230(AACT;AACT)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

21554127

Gene

ALPL

is a	snp
is	mentioned by
dbSNP	rs1057516230
dbSNP (classic)	rs1057516230
ClinGen	rs1057516230
ebi	rs1057516230
HLI	rs1057516230
Exac	rs1057516230
Gnomad	rs1057516230
Varsome	rs1057516230
LitVar	rs1057516230
Map	rs1057516230
PheGenI	rs1057516230
Biobank	rs1057516230
1000 genomes	rs1057516230
hgdp	rs1057516230
ensembl	rs1057516230
geneview	rs1057516230
scholar	rs1057516230
google	rs1057516230
pharmgkb	rs1057516230
gwascentral	rs1057516230
openSNP	rs1057516230
23andMe	rs1057516230
SNPshot	rs1057516230
SNPdbe	rs1057516230
MSV3d	rs1057516230
GWAS Ctlg	rs1057516230

Max Magnitude

0

ClinVar
Risk	rs1057516230(-;-)
Alt	rs1057516230(-;-)
Reference	Rs1057516230(ACTA;ACTA)
Significance	Probable-Pathogenic
Disease	Infantile hypophosphatasia
Variation	info
Gene	ALPL
CLNDBN	Infantile hypophosphatasia
Reversed	0
HGVS	NC_000001.10:g.21880620_21880623delAACT
CLNSRC
CLNACC	RCV000411162.1,