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rs137852213

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852213(G;T)
Make rs137852213(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position15845965
GeneAP1S2
is asnp
is mentioned by
dbSNPrs137852213
ebirs137852213
HLIrs137852213
Exacrs137852213
Varsomers137852213
Maprs137852213
PheGenIrs137852213
hapmaprs137852213
1000 genomesrs137852213
hgdprs137852213
ensemblrs137852213
gopubmedrs137852213
geneviewrs137852213
scholarrs137852213
googlers137852213
pharmgkbrs137852213
gwascentralrs137852213
openSNPrs137852213
23andMers137852213
23andMe allrs137852213
SNP Nexus

SNPshotrs137852213
SNPdbers137852213
MSV3drs137852213
GWAS Ctlgrs137852213
Max Magnitude0
OMIM300629
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852213(T;T)
Alt rs137852213(T;T)
Reference rs137852213(G;G)
Significance Pathogenic
Disease Pettigrew syndrome
Variation info
Gene AP1S2
CLNDBN Pettigrew syndrome
Reversed 1
HGVS NC_000023.10:g.15864088C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011528.6,