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rs1057516702

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1057516702(-;-)
Make rs1057516702(-;TC)
Make rs1057516702(TC;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position21573730
GeneALPL
is asnp
is mentioned by
dbSNPrs1057516702
dbSNP (old)rs1057516702
ClinGenrs1057516702
ebirs1057516702
HLIrs1057516702
Exacrs1057516702
Gnomadrs1057516702
Varsomers1057516702
Maprs1057516702
PheGenIrs1057516702
Biobankrs1057516702
1000 genomesrs1057516702
hgdprs1057516702
ensemblrs1057516702
gopubmedrs1057516702
geneviewrs1057516702
scholarrs1057516702
googlers1057516702
pharmgkbrs1057516702
gwascentralrs1057516702
openSNPrs1057516702
23andMers1057516702
23andMe allrs1057516702
SNPshotrs1057516702
SNPdbers1057516702
MSV3drs1057516702
GWAS Ctlgrs1057516702
Max Magnitude0
ClinVar
Risk rs1057516702(-;-)
Alt rs1057516702(-;-)
Reference Rs1057516702(CT;CT)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21900223_21900224delTC
CLNSRC
CLNACC RCV000409870.1,