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rs869025569

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869025569(-;-)
Make rs869025569(-;A)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position47057443
GeneSETD2
is asnp
is mentioned by
dbSNPrs869025569
ebirs869025569
HLIrs869025569
Exacrs869025569
Varsomers869025569
Maprs869025569
PheGenIrs869025569
hapmaprs869025569
1000 genomesrs869025569
hgdprs869025569
ensemblrs869025569
gopubmedrs869025569
geneviewrs869025569
scholarrs869025569
googlers869025569
pharmgkbrs869025569
gwascentralrs869025569
openSNPrs869025569
23andMers869025569
23andMe allrs869025569
SNP Nexus

SNPshotrs869025569
SNPdbers869025569
MSV3drs869025569
GWAS Ctlgrs869025569
Max Magnitude0
ClinVar
Risk rs869025569(;)
Alt rs869025569(;)
Reference rs869025569(A;A)
Significance Pathogenic
Disease Luscan-lumish syndrome
Variation info
Gene SETD2
CLNDBN Luscan-lumish syndrome
Reversed 1
HGVS NC_000003.11:g.47098933delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000208546.1,