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rs672601342

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs672601342(A;A)
Make rs672601342(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position44950936
GeneSETBP1
is asnp
is mentioned by
dbSNPrs672601342
ebirs672601342
HLIrs672601342
Exacrs672601342
Varsomers672601342
Maprs672601342
PheGenIrs672601342
hapmaprs672601342
1000 genomesrs672601342
hgdprs672601342
ensemblrs672601342
gopubmedrs672601342
geneviewrs672601342
scholarrs672601342
googlers672601342
pharmgkbrs672601342
gwascentralrs672601342
openSNPrs672601342
23andMers672601342
23andMe allrs672601342
SNP Nexus

SNPshotrs672601342
SNPdbers672601342
MSV3drs672601342
GWAS Ctlgrs672601342
Max Magnitude0
ClinVar
Risk rs672601342(A;A)
Alt rs672601342(A;A)
Reference rs672601342(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene SETBP1
CLNDBN Mental retardation, autosomal dominant 29
Reversed 0
HGVS NC_000018.9:g.42530901G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000144901.3,