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rs3200254

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs3200254(C;C)
Make rs3200254(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position21568242
GeneALPL
is asnp
is mentioned by
dbSNPrs3200254
ebirs3200254
HLIrs3200254
Exacrs3200254
Varsomers3200254
Maprs3200254
PheGenIrs3200254
hapmaprs3200254
1000 genomesrs3200254
hgdprs3200254
ensemblrs3200254
gopubmedrs3200254
geneviewrs3200254
scholarrs3200254
googlers3200254
pharmgkbrs3200254
gwascentralrs3200254
openSNPrs3200254
23andMers3200254
23andMe allrs3200254
SNP Nexus

SNPshotrs3200254
SNPdbers3200254
MSV3drs3200254
GWAS Ctlgrs3200254
Merged fromRs3738099
GMAF0.2787
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 17195227] Association of a TNAP haplotype with ankylosing spondylitis.

[PMID 18769922] No significant association between genetic polymorphisms in the TNAP gene and ankylosing spondylitis in the Chinese Han population.

[PMID 19500388OA-icon.png] Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.

GET Evidence
ALPL-Y263H
aa_change Tyr263His
aa_change_short Y263H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.16332
summary


ClinVar
Risk rs3200254(C;C)
Alt rs3200254(C;C)
Reference rs3200254(T;T)
Significance Non-pathogenic
Disease not specified Hypophosphatasia
Variation info
Gene ALPL
CLNDBN not specified Hypophosphatasia
Reversed 0
HGVS NC_000001.10:g.21894735T>C
CLNSRC
CLNACC RCV000179760.1, RCV000207155.1,