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rs1057517786

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5.2 Cerebral cavernous angioma associated mutation; variable penetrance
Make rs1057517786(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position167704889
GenePDCD10
is asnp
is mentioned by
dbSNPrs1057517786
dbSNP (old)rs1057517786
ClinGenrs1057517786
ebirs1057517786
HLIrs1057517786
Exacrs1057517786
Gnomadrs1057517786
Varsomers1057517786
Maprs1057517786
PheGenIrs1057517786
Biobankrs1057517786
1000 genomesrs1057517786
hgdprs1057517786
ensemblrs1057517786
gopubmedrs1057517786
geneviewrs1057517786
scholarrs1057517786
googlers1057517786
pharmgkbrs1057517786
gwascentralrs1057517786
openSNPrs1057517786
23andMers1057517786
23andMe allrs1057517786
SNPshotrs1057517786
SNPdbers1057517786
MSV3drs1057517786
GWAS Ctlgrs1057517786
Max Magnitude5.2

aka c.103C>T (p.Arg35Ter)

ClinVar
Risk rs1057517786(T;T)
Alt rs1057517786(T;T)
Reference Rs1057517786(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene PDCD10
CLNDBN not provided
Reversed 1
HGVS NC_000003.11:g.167422677G>A
CLNSRC
CLNACC RCV000414133.1,