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rs1057519368

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519368(C;C)
Make rs1057519368(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position87957958
GenePTEN
is asnp
is mentioned by
dbSNPrs1057519368
dbSNP (classic)rs1057519368
ClinGenrs1057519368
ebirs1057519368
HLIrs1057519368
Exacrs1057519368
Gnomadrs1057519368
Varsomers1057519368
LitVarrs1057519368
Maprs1057519368
PheGenIrs1057519368
Biobankrs1057519368
1000 genomesrs1057519368
hgdprs1057519368
ensemblrs1057519368
geneviewrs1057519368
scholarrs1057519368
googlers1057519368
pharmgkbrs1057519368
gwascentralrs1057519368
openSNPrs1057519368
23andMers1057519368
SNPshotrs1057519368
SNPdbers1057519368
MSV3drs1057519368
GWAS Ctlgrs1057519368
Max Magnitude0
ClinVar
Risk rs1057519368(C;C) rs1057519368(G;G)
Alt rs1057519368(C;C) rs1057519368(G;G)
Reference Rs1057519368(T;T)
Significance Pathogenic
Disease Macrocephaly/autism syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene PTEN
CLNDBN Macrocephaly/autism syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000010.10:g.89717715T>C; NC_000010.10:g.89717715T>G
CLNSRC
CLNACC RCV000416564.1, RCV000491091.1,