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rs1057517122

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517122(-;-)
Make rs1057517122(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position21560693
GeneALPL
is asnp
is mentioned by
dbSNPrs1057517122
dbSNP (old)rs1057517122
ClinGenrs1057517122
ebirs1057517122
HLIrs1057517122
Exacrs1057517122
Gnomadrs1057517122
Varsomers1057517122
Maprs1057517122
PheGenIrs1057517122
Biobankrs1057517122
1000 genomesrs1057517122
hgdprs1057517122
ensemblrs1057517122
gopubmedrs1057517122
geneviewrs1057517122
scholarrs1057517122
googlers1057517122
pharmgkbrs1057517122
gwascentralrs1057517122
openSNPrs1057517122
23andMers1057517122
23andMe allrs1057517122
SNPshotrs1057517122
SNPdbers1057517122
MSV3drs1057517122
GWAS Ctlgrs1057517122
Max Magnitude0
ClinVar
Risk rs1057517122(-;-)
Alt rs1057517122(-;-)
Reference Rs1057517122(T;T)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21887186delT
CLNSRC
CLNACC RCV000411776.1,