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rs1057517304

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517304(A;A)
Make rs1057517304(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position21561214
GeneALPL
is asnp
is mentioned by
dbSNPrs1057517304
dbSNP (old)rs1057517304
ClinGenrs1057517304
ebirs1057517304
HLIrs1057517304
Exacrs1057517304
Gnomadrs1057517304
Varsomers1057517304
Maprs1057517304
PheGenIrs1057517304
Biobankrs1057517304
1000 genomesrs1057517304
hgdprs1057517304
ensemblrs1057517304
gopubmedrs1057517304
geneviewrs1057517304
scholarrs1057517304
googlers1057517304
pharmgkbrs1057517304
gwascentralrs1057517304
openSNPrs1057517304
23andMers1057517304
23andMe allrs1057517304
SNPshotrs1057517304
SNPdbers1057517304
MSV3drs1057517304
GWAS Ctlgrs1057517304
Max Magnitude0
ClinVar
Risk rs1057517304(A;A)
Alt rs1057517304(A;A)
Reference Rs1057517304(T;T)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21887707T>A
CLNSRC
CLNACC RCV000411240.1,