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rs386834007

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACTTT;ACTTT) 0 common in clinvar
Make rs386834007(-;-)
Make rs386834007(-;ACTTT)
ReferenceGRCh38 38.1/141
Chromosome17
Position59064373
GeneTRIM37
is asnp
is mentioned by
dbSNPrs386834007
ebirs386834007
HLIrs386834007
Exacrs386834007
Varsomers386834007
Maprs386834007
PheGenIrs386834007
hapmaprs386834007
1000 genomesrs386834007
hgdprs386834007
ensemblrs386834007
gopubmedrs386834007
geneviewrs386834007
scholarrs386834007
googlers386834007
pharmgkbrs386834007
gwascentralrs386834007
openSNPrs386834007
23andMers386834007
23andMe allrs386834007
SNP Nexus

SNPshotrs386834007
SNPdbers386834007
MSV3drs386834007
GWAS Ctlgrs386834007
Max Magnitude0
ClinVar
Risk rs386834007(;)
Alt rs386834007(;)
Reference rs386834007(ACTTT;ACTTT)
Significance Probable-Pathogenic
Disease Mulibrey nanism syndrome
Variation info
Gene TRIM37
CLNDBN Mulibrey nanism syndrome
Reversed 1
HGVS NC_000017.10:g.57141734_57141738delAAAGT
CLNSRC ClinVar
CLNACC RCV000049985.1,


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