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rs1057516443

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516443(-;G)
Make rs1057516443(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position21568117
GeneALPL
is asnp
is mentioned by
dbSNPrs1057516443
dbSNP (old)rs1057516443
ClinGenrs1057516443
ebirs1057516443
HLIrs1057516443
Exacrs1057516443
Gnomadrs1057516443
Varsomers1057516443
Maprs1057516443
PheGenIrs1057516443
Biobankrs1057516443
1000 genomesrs1057516443
hgdprs1057516443
ensemblrs1057516443
gopubmedrs1057516443
geneviewrs1057516443
scholarrs1057516443
googlers1057516443
pharmgkbrs1057516443
gwascentralrs1057516443
openSNPrs1057516443
23andMers1057516443
23andMe allrs1057516443
SNPshotrs1057516443
SNPdbers1057516443
MSV3drs1057516443
GWAS Ctlgrs1057516443
Max Magnitude0
ClinVar
Risk rs1057516443(G;G)
Alt rs1057516443(G;G)
Reference Rs1057516443(-;-)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21894610dupG
CLNSRC
CLNACC RCV000412052.1,