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rs1057516293

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516293(C;T)
Make rs1057516293(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position21560694
GeneALPL
is asnp
is mentioned by
dbSNPrs1057516293
dbSNP (old)rs1057516293
ClinGenrs1057516293
ebirs1057516293
HLIrs1057516293
Exacrs1057516293
Gnomadrs1057516293
Varsomers1057516293
Maprs1057516293
PheGenIrs1057516293
Biobankrs1057516293
1000 genomesrs1057516293
hgdprs1057516293
ensemblrs1057516293
gopubmedrs1057516293
geneviewrs1057516293
scholarrs1057516293
googlers1057516293
pharmgkbrs1057516293
gwascentralrs1057516293
openSNPrs1057516293
23andMers1057516293
23andMe allrs1057516293
SNPshotrs1057516293
SNPdbers1057516293
MSV3drs1057516293
GWAS Ctlgrs1057516293
Max Magnitude0
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,