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rs1057516526

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516526(-;-)
Make rs1057516526(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position21570353
GeneALPL
is asnp
is mentioned by
dbSNPrs1057516526
dbSNP (old)rs1057516526
ClinGenrs1057516526
ebirs1057516526
HLIrs1057516526
Exacrs1057516526
Gnomadrs1057516526
Varsomers1057516526
Maprs1057516526
PheGenIrs1057516526
Biobankrs1057516526
1000 genomesrs1057516526
hgdprs1057516526
ensemblrs1057516526
gopubmedrs1057516526
geneviewrs1057516526
scholarrs1057516526
googlers1057516526
pharmgkbrs1057516526
gwascentralrs1057516526
openSNPrs1057516526
23andMers1057516526
23andMe allrs1057516526
SNPshotrs1057516526
SNPdbers1057516526
MSV3drs1057516526
GWAS Ctlgrs1057516526
Max Magnitude0
ClinVar
Risk rs1057516526(-;-)
Alt rs1057516526(-;-)
Reference Rs1057516526(C;C)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21896846delC
CLNSRC
CLNACC RCV000411878.1,