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rs1057516230

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACTA;ACTA) 0 common in clinvar
Make rs1057516230(-;-)
Make rs1057516230(-;AACT)
Make rs1057516230(AACT;AACT)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position21554127
GeneALPL
is asnp
is mentioned by
dbSNPrs1057516230
dbSNP (old)rs1057516230
ClinGenrs1057516230
ebirs1057516230
HLIrs1057516230
Exacrs1057516230
Gnomadrs1057516230
Varsomers1057516230
Maprs1057516230
PheGenIrs1057516230
Biobankrs1057516230
1000 genomesrs1057516230
hgdprs1057516230
ensemblrs1057516230
gopubmedrs1057516230
geneviewrs1057516230
scholarrs1057516230
googlers1057516230
pharmgkbrs1057516230
gwascentralrs1057516230
openSNPrs1057516230
23andMers1057516230
23andMe allrs1057516230
SNPshotrs1057516230
SNPdbers1057516230
MSV3drs1057516230
GWAS Ctlgrs1057516230
Max Magnitude0
ClinVar
Risk rs1057516230(-;-)
Alt rs1057516230(-;-)
Reference Rs1057516230(ACTA;ACTA)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21880620_21880623delAACT
CLNSRC
CLNACC RCV000411162.1,