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rs1057516748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516748(-;-)
Make rs1057516748(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position21573705
GeneALPL
is asnp
is mentioned by
dbSNPrs1057516748
dbSNP (old)rs1057516748
ClinGenrs1057516748
ebirs1057516748
HLIrs1057516748
Exacrs1057516748
Gnomadrs1057516748
Varsomers1057516748
Maprs1057516748
PheGenIrs1057516748
Biobankrs1057516748
1000 genomesrs1057516748
hgdprs1057516748
ensemblrs1057516748
gopubmedrs1057516748
geneviewrs1057516748
scholarrs1057516748
googlers1057516748
pharmgkbrs1057516748
gwascentralrs1057516748
openSNPrs1057516748
23andMers1057516748
23andMe allrs1057516748
SNPshotrs1057516748
SNPdbers1057516748
MSV3drs1057516748
GWAS Ctlgrs1057516748
Max Magnitude0
ClinVar
Risk rs1057516748(-;-)
Alt rs1057516748(-;-)
Reference Rs1057516748(G;G)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21900198delG
CLNSRC
CLNACC RCV000409238.1,