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rs1057516978

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516978(-;-)
Make rs1057516978(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position21564090
GeneALPL
is asnp
is mentioned by
dbSNPrs1057516978
dbSNP (classic)rs1057516978
ClinGenrs1057516978
ebirs1057516978
HLIrs1057516978
Exacrs1057516978
Gnomadrs1057516978
Varsomers1057516978
LitVarrs1057516978
Maprs1057516978
PheGenIrs1057516978
Biobankrs1057516978
1000 genomesrs1057516978
hgdprs1057516978
ensemblrs1057516978
geneviewrs1057516978
scholarrs1057516978
googlers1057516978
pharmgkbrs1057516978
gwascentralrs1057516978
openSNPrs1057516978
23andMers1057516978
23andMe allrs1057516978
SNPshotrs1057516978
SNPdbers1057516978
MSV3drs1057516978
GWAS Ctlgrs1057516978
Max Magnitude0
ClinVar
Risk rs1057516978(-;-)
Alt rs1057516978(-;-)
Reference Rs1057516978(C;C)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21890583delC
CLNSRC
CLNACC RCV000409728.1,