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rs774843232

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs774843232(G;T)
Make rs774843232(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position3825024
GenePGAP2
is asnp
is mentioned by
dbSNPrs774843232
ebirs774843232
HLIrs774843232
Exacrs774843232
Varsomers774843232
Maprs774843232
PheGenIrs774843232
hapmaprs774843232
1000 genomesrs774843232
hgdprs774843232
ensemblrs774843232
gopubmedrs774843232
geneviewrs774843232
scholarrs774843232
googlers774843232
pharmgkbrs774843232
gwascentralrs774843232
openSNPrs774843232
23andMers774843232
23andMe allrs774843232
SNP Nexus

SNPshotrs774843232
SNPdbers774843232
MSV3drs774843232
GWAS Ctlgrs774843232
Max Magnitude0
ClinVar
Risk rs774843232(A,C,T;A,C,T)
Alt rs774843232(A,C,T;A,C,T)
Reference rs774843232(G;G)
Significance Pathogenic
Disease Hyperphosphatasia with mental retardation syndrome 3
Variation info
Gene PGAP2
CLNDBN Hyperphosphatasia with mental retardation syndrome 3
Reversed 0
HGVS NC_000011.9:g.3846254G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000043536.3,