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rs1057516334

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516334(C;T)
Make rs1057516334(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position21560652
GeneALPL
is asnp
is mentioned by
dbSNPrs1057516334
dbSNP (old)rs1057516334
ClinGenrs1057516334
ebirs1057516334
HLIrs1057516334
Exacrs1057516334
Gnomadrs1057516334
Varsomers1057516334
Maprs1057516334
PheGenIrs1057516334
Biobankrs1057516334
1000 genomesrs1057516334
hgdprs1057516334
ensemblrs1057516334
gopubmedrs1057516334
geneviewrs1057516334
scholarrs1057516334
googlers1057516334
pharmgkbrs1057516334
gwascentralrs1057516334
openSNPrs1057516334
23andMers1057516334
23andMe allrs1057516334
SNPshotrs1057516334
SNPdbers1057516334
MSV3drs1057516334
GWAS Ctlgrs1057516334
Max Magnitude0
ClinVar
Risk rs1057516334(T;T)
Alt rs1057516334(T;T)
Reference Rs1057516334(C;C)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21887145C>T
CLNSRC
CLNACC RCV000410316.1,