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rs1057517391

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517391(G;G)
Make rs1057517391(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position21573801
GeneALPL
is asnp
is mentioned by
dbSNPrs1057517391
dbSNP (old)rs1057517391
ClinGenrs1057517391
ebirs1057517391
HLIrs1057517391
Exacrs1057517391
Gnomadrs1057517391
Varsomers1057517391
Maprs1057517391
PheGenIrs1057517391
Biobankrs1057517391
1000 genomesrs1057517391
hgdprs1057517391
ensemblrs1057517391
gopubmedrs1057517391
geneviewrs1057517391
scholarrs1057517391
googlers1057517391
pharmgkbrs1057517391
gwascentralrs1057517391
openSNPrs1057517391
23andMers1057517391
23andMe allrs1057517391
SNPshotrs1057517391
SNPdbers1057517391
MSV3drs1057517391
GWAS Ctlgrs1057517391
Max Magnitude0
ClinVar
Risk rs1057517391(G;G)
Alt rs1057517391(G;G)
Reference Rs1057517391(T;T)
Significance Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21900294T>G
CLNSRC
CLNACC RCV000410728.1,