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rs386834001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386834001(C;T)
Make rs386834001(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position59049297
GeneTRIM37
is asnp
is mentioned by
dbSNPrs386834001
ebirs386834001
HLIrs386834001
Exacrs386834001
Varsomers386834001
Maprs386834001
PheGenIrs386834001
hapmaprs386834001
1000 genomesrs386834001
hgdprs386834001
ensemblrs386834001
gopubmedrs386834001
geneviewrs386834001
scholarrs386834001
googlers386834001
pharmgkbrs386834001
gwascentralrs386834001
openSNPrs386834001
23andMers386834001
23andMe allrs386834001
SNP Nexus

SNPshotrs386834001
SNPdbers386834001
MSV3drs386834001
GWAS Ctlgrs386834001
Max Magnitude0
ClinVar
Risk rs386834001(T;T)
Alt rs386834001(T;T)
Reference rs386834001(C;C)
Significance Probable-Pathogenic
Disease Mulibrey nanism syndrome
Variation info
Gene TRIM37
CLNDBN Mulibrey nanism syndrome
Reversed 1
HGVS NC_000017.10:g.57126658G>A
CLNSRC ClinVar
CLNACC RCV000049978.1,


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