rs386834002

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GA;GA)	0	common in clinvar

Make rs386834002(-;-)

Make rs386834002(-;GA)

Reference

GRCh38 38.1/141

Chromosome

17

Position

59031949

Gene

TRIM37

is a	snp
is	mentioned by
dbSNP	rs386834002
dbSNP (classic)	rs386834002
ClinGen	rs386834002
ebi	rs386834002
HLI	rs386834002
Exac	rs386834002
Gnomad	rs386834002
Varsome	rs386834002
LitVar	rs386834002
Map	rs386834002
PheGenI	rs386834002
Biobank	rs386834002
1000 genomes	rs386834002
hgdp	rs386834002
ensembl	rs386834002
geneview	rs386834002
scholar	rs386834002
google	rs386834002
pharmgkb	rs386834002
gwascentral	rs386834002
openSNP	rs386834002
23andMe	rs386834002
SNPshot	rs386834002
SNPdbe	rs386834002
MSV3d	rs386834002
GWAS Ctlg	rs386834002

Max Magnitude

0

ClinVar
Risk	rs386834002(-;-)
Alt	rs386834002(-;-)
Reference	Rs386834002(GA;GA)
Significance	Probable-Pathogenic
Disease	Mulibrey nanism syndrome
Variation	info
Gene	TRIM37
CLNDBN	Mulibrey nanism syndrome
Reversed	1
HGVS	NC_000017.10:g.57109310_57109311delTC
CLNSRC	ClinVar
CLNACC	RCV000049979.1,

[PMID 17551331] A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy.