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rs1057517322

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517322(-;GCAG)
Make rs1057517322(GCAG;GCAG)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position21575826
GeneALPL
is asnp
is mentioned by
dbSNPrs1057517322
dbSNP (old)rs1057517322
ClinGenrs1057517322
ebirs1057517322
HLIrs1057517322
Exacrs1057517322
Gnomadrs1057517322
Varsomers1057517322
Maprs1057517322
PheGenIrs1057517322
Biobankrs1057517322
1000 genomesrs1057517322
hgdprs1057517322
ensemblrs1057517322
gopubmedrs1057517322
geneviewrs1057517322
scholarrs1057517322
googlers1057517322
pharmgkbrs1057517322
gwascentralrs1057517322
openSNPrs1057517322
23andMers1057517322
23andMe allrs1057517322
SNPshotrs1057517322
SNPdbers1057517322
MSV3drs1057517322
GWAS Ctlgrs1057517322
Max Magnitude0
ClinVar
Risk rs1057517322(GGCA;GGCA)
Alt rs1057517322(GGCA;GGCA)
Reference Rs1057517322(-;-)
Significance Probable-Pathogenic
Disease Infantile hypophosphatasia
Variation info
Gene ALPL
CLNDBN Infantile hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21902316_21902319dupGCAG
CLNSRC
CLNACC RCV000412106.1,