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rs386834000

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834000(-;-)
Make rs386834000(-;A)
Make rs386834000(A;A)
ReferenceGRCh38 38.1/141
Chromosome17
Position59049361
GeneTRIM37
is asnp
is mentioned by
dbSNPrs386834000
ebirs386834000
HLIrs386834000
Exacrs386834000
Varsomers386834000
Maprs386834000
PheGenIrs386834000
hapmaprs386834000
1000 genomesrs386834000
hgdprs386834000
ensemblrs386834000
gopubmedrs386834000
geneviewrs386834000
scholarrs386834000
googlers386834000
pharmgkbrs386834000
gwascentralrs386834000
openSNPrs386834000
23andMers386834000
23andMe allrs386834000
SNP Nexus

SNPshotrs386834000
SNPdbers386834000
MSV3drs386834000
GWAS Ctlgrs386834000
Max Magnitude0
ClinVar
Risk rs386834000(A;A)
Alt rs386834000(A;A)
Reference rs386834000(;)
Significance Probable-Pathogenic
Disease Mulibrey nanism syndrome
Variation info
Gene TRIM37
CLNDBN Mulibrey nanism syndrome
Reversed 1
HGVS NC_000017.10:g.57126723dupT
CLNSRC ClinVar
CLNACC RCV000049977.1,


[PMID 10888877] Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.