Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833999

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833999(-;-)
Make rs386833999(-;AGAT)
Make rs386833999(AGAT;AGAT)
ReferenceGRCh38 38.1/141
Chromosome17
Position59057033
GeneTRIM37
is asnp
is mentioned by
dbSNPrs386833999
ebirs386833999
HLIrs386833999
Exacrs386833999
Varsomers386833999
Maprs386833999
PheGenIrs386833999
hapmaprs386833999
1000 genomesrs386833999
hgdprs386833999
ensemblrs386833999
gopubmedrs386833999
geneviewrs386833999
scholarrs386833999
googlers386833999
pharmgkbrs386833999
gwascentralrs386833999
openSNPrs386833999
23andMers386833999
23andMe allrs386833999
SNP Nexus

SNPshotrs386833999
SNPdbers386833999
MSV3drs386833999
GWAS Ctlgrs386833999
Max Magnitude0
ClinVar
Risk rs386833999(AGAT;AGAT)
Alt rs386833999(AGAT;AGAT)
Reference rs386833999(;)
Significance Probable-Pathogenic
Disease Mulibrey nanism syndrome
Variation info
Gene TRIM37
CLNDBN Mulibrey nanism syndrome
Reversed 1
HGVS NC_000017.10:g.57134395_57134398dupATCT
CLNSRC ClinVar
CLNACC RCV000049976.1,


[PMID 15108285] Novel mutations in the TRIM37 gene in Mulibrey Nanism.