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rs869025571

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025571(C;T)
Make rs869025571(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position47123816
GeneSETD2
is asnp
is mentioned by
dbSNPrs869025571
ebirs869025571
HLIrs869025571
Exacrs869025571
Varsomers869025571
Maprs869025571
PheGenIrs869025571
hapmaprs869025571
1000 genomesrs869025571
hgdprs869025571
ensemblrs869025571
gopubmedrs869025571
geneviewrs869025571
scholarrs869025571
googlers869025571
pharmgkbrs869025571
gwascentralrs869025571
openSNPrs869025571
23andMers869025571
23andMe allrs869025571
SNP Nexus

SNPshotrs869025571
SNPdbers869025571
MSV3drs869025571
GWAS Ctlgrs869025571
Max Magnitude0
ClinVar
Risk rs869025571(T;T)
Alt rs869025571(T;T)
Reference rs869025571(C;C)
Significance Pathogenic
Disease Luscan-lumish syndrome
Variation info
Gene SETD2
CLNDBN Luscan-lumish syndrome
Reversed 1
HGVS NC_000003.11:g.47165306G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000208536.1,