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rs1130335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1130335(C;T)
Make rs1130335(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position232378876
GeneALPP
is asnp
is mentioned by
dbSNPrs1130335
ebirs1130335
HLIrs1130335
Exacrs1130335
Varsomers1130335
Maprs1130335
PheGenIrs1130335
hapmaprs1130335
1000 genomesrs1130335
hgdprs1130335
ensemblrs1130335
gopubmedrs1130335
geneviewrs1130335
scholarrs1130335
googlers1130335
pharmgkbrs1130335
gwascentralrs1130335
openSNPrs1130335
23andMers1130335
23andMe allrs1130335
SNP Nexus

SNPshotrs1130335
SNPdbers1130335
MSV3drs1130335
GWAS Ctlgrs1130335
GMAF0.0955
Max Magnitude0
? (C;C) (C;T) (T;T) 28
ClinVar
Risk rs1130335(T;T)
Alt rs1130335(T;T)
Reference rs1130335(C;C)
Significance Non-pathogenic
Disease ALKALINE PHOSPHATASE ALKALINE PHOSPHATASE
Variation info
Gene ALPP
CLNDBN ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-3 POLYMORPHISM
Reversed 0
HGVS NC_000002.11:g.233243586C\x3d; NC_000002.11:g.233243586C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014644.3, RCV000014646.3,



GET Evidence
ALPP-P25L
aa_change Pro25Leu
aa_change_short P25L
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0658115
summary