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rs1057516622

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516622(A;G)
Make rs1057516622(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position21575731
GeneALPL
is asnp
is mentioned by
dbSNPrs1057516622
dbSNP (classic)rs1057516622
ClinGenrs1057516622
ebirs1057516622
HLIrs1057516622
Exacrs1057516622
Gnomadrs1057516622
Varsomers1057516622
LitVarrs1057516622
Maprs1057516622
PheGenIrs1057516622
Biobankrs1057516622
1000 genomesrs1057516622
hgdprs1057516622
ensemblrs1057516622
geneviewrs1057516622
scholarrs1057516622
googlers1057516622
pharmgkbrs1057516622
gwascentralrs1057516622
openSNPrs1057516622
23andMers1057516622
SNPshotrs1057516622
SNPdbers1057516622
MSV3drs1057516622
GWAS Ctlgrs1057516622
Max Magnitude0
ClinVar
Risk rs1057516622(G;G)
Alt rs1057516622(G;G)
Reference Rs1057516622(A;A)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21902224A>G
CLNSRC
CLNACC RCV000412264.1,