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rs749544042

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 4 hypophosphatasia
(A;G) 3 carrier of a hypophosphatasia allele
(G;G) 0 normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position21564217
GeneALPL
is asnp
is mentioned by
dbSNPrs749544042
ebirs749544042
HLIrs749544042
Exacrs749544042
Varsomers749544042
Maprs749544042
PheGenIrs749544042
hapmaprs749544042
1000 genomesrs749544042
hgdprs749544042
ensemblrs749544042
gopubmedrs749544042
geneviewrs749544042
scholarrs749544042
googlers749544042
pharmgkbrs749544042
gwascentralrs749544042
openSNPrs749544042
23andMers749544042
23andMe allrs749544042
SNP Nexus

SNPshotrs749544042
SNPdbers749544042
MSV3drs749544042
GWAS Ctlgrs749544042
Max Magnitude4
rs749544042, also known as c.648+1G>A, is a SNP in the ALPL gene on chromosome 1.

Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the perinatal form of hypophosphatasia.

ClinVar
Risk rs749544042(A;A)
Alt rs749544042(A;A)
Reference rs749544042(G;G)
Significance Pathogenic
Disease Hypophosphatasia
Variation info
Gene ALPL
CLNDBN Hypophosphatasia, perinatal lethal
Reversed 0
HGVS NC_000001.10:g.21890710G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014671.27,