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rs386834005

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834005(C;T)
Make rs386834005(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position59070887
GeneTRIM37
is asnp
is mentioned by
dbSNPrs386834005
ebirs386834005
HLIrs386834005
Exacrs386834005
Varsomers386834005
Maprs386834005
PheGenIrs386834005
hapmaprs386834005
1000 genomesrs386834005
hgdprs386834005
ensemblrs386834005
gopubmedrs386834005
geneviewrs386834005
scholarrs386834005
googlers386834005
pharmgkbrs386834005
gwascentralrs386834005
openSNPrs386834005
23andMers386834005
23andMe allrs386834005
SNP Nexus

SNPshotrs386834005
SNPdbers386834005
MSV3drs386834005
GWAS Ctlgrs386834005
Max Magnitude0
ClinVar
Risk rs386834005(T;T)
Alt rs386834005(T;T)
Reference rs386834005(C;C)
Significance Probable-Pathogenic
Disease Mulibrey nanism syndrome
Variation info
Gene TRIM37
CLNDBN Mulibrey nanism syndrome
Reversed 1
HGVS NC_000017.10:g.57148248G>A
CLNSRC ClinVar
CLNACC RCV000049983.1,


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