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rs1057517321

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517321(-;-)
Make rs1057517321(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position21560678
GeneALPL
is asnp
is mentioned by
dbSNPrs1057517321
dbSNP (old)rs1057517321
ClinGenrs1057517321
ebirs1057517321
HLIrs1057517321
Exacrs1057517321
Gnomadrs1057517321
Varsomers1057517321
Maprs1057517321
PheGenIrs1057517321
Biobankrs1057517321
1000 genomesrs1057517321
hgdprs1057517321
ensemblrs1057517321
gopubmedrs1057517321
geneviewrs1057517321
scholarrs1057517321
googlers1057517321
pharmgkbrs1057517321
gwascentralrs1057517321
openSNPrs1057517321
23andMers1057517321
23andMe allrs1057517321
SNPshotrs1057517321
SNPdbers1057517321
MSV3drs1057517321
GWAS Ctlgrs1057517321
Max Magnitude0
ClinVar
Risk rs1057517321(-;-)
Alt rs1057517321(-;-)
Reference Rs1057517321(A;A)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21887171delA
CLNSRC
CLNACC RCV000411021.1,