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rs869025572

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869025572(-;-)
Make rs869025572(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position47122608
GeneSETD2
is asnp
is mentioned by
dbSNPrs869025572
ebirs869025572
HLIrs869025572
Exacrs869025572
Varsomers869025572
Maprs869025572
PheGenIrs869025572
hapmaprs869025572
1000 genomesrs869025572
hgdprs869025572
ensemblrs869025572
gopubmedrs869025572
geneviewrs869025572
scholarrs869025572
googlers869025572
pharmgkbrs869025572
gwascentralrs869025572
openSNPrs869025572
23andMers869025572
23andMe allrs869025572
SNP Nexus

SNPshotrs869025572
SNPdbers869025572
MSV3drs869025572
GWAS Ctlgrs869025572
Max Magnitude0
ClinVar
Risk rs869025572(;)
Alt rs869025572(;)
Reference rs869025572(T;T)
Significance Pathogenic
Disease Luscan-lumish syndrome
Variation info
Gene SETD2
CLNDBN Luscan-lumish syndrome
Reversed 1
HGVS NC_000003.11:g.47164098delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000208551.1,