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rs869025570

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869025570(G;G)
Make rs869025570(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position47084336
GeneSETD2
is asnp
is mentioned by
dbSNPrs869025570
ebirs869025570
HLIrs869025570
Exacrs869025570
Varsomers869025570
Maprs869025570
PheGenIrs869025570
hapmaprs869025570
1000 genomesrs869025570
hgdprs869025570
ensemblrs869025570
gopubmedrs869025570
geneviewrs869025570
scholarrs869025570
googlers869025570
pharmgkbrs869025570
gwascentralrs869025570
openSNPrs869025570
23andMers869025570
23andMe allrs869025570
SNP Nexus

SNPshotrs869025570
SNPdbers869025570
MSV3drs869025570
GWAS Ctlgrs869025570
Max Magnitude0
ClinVar
Risk rs869025570(G;G)
Alt rs869025570(G;G)
Reference rs869025570(T;T)
Significance Pathogenic
Disease Luscan-lumish syndrome
Variation info
Gene SETD2
CLNDBN Luscan-lumish syndrome
Reversed 1
HGVS NC_000003.11:g.47125826A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000208561.1,