rs121908338

plus

Geno	Mag	Summary
(A;G)	1	Likely to be benign; originally reported to cause left ventricular noncompaction
(G;G)	0	common in clinvar

Make rs121908338(A;A)

Reference

GRCh38 38.1/141

Chromosome

10

Position

86687073

Gene

LDB3

is a	snp
is	mentioned by
dbSNP	rs121908338
dbSNP (classic)	rs121908338
ClinGen	rs121908338
ebi	rs121908338
HLI	rs121908338
Exac	rs121908338
Gnomad	rs121908338
Varsome	rs121908338
LitVar	rs121908338
Map	rs121908338
PheGenI	rs121908338
Biobank	rs121908338
1000 genomes	rs121908338
hgdp	rs121908338
ensembl	rs121908338
geneview	rs121908338
scholar	rs121908338
google	rs121908338
pharmgkb	rs121908338
gwascentral	rs121908338
openSNP	rs121908338
23andMe	rs121908338
SNPshot	rs121908338
SNPdbe	rs121908338
MSV3d	rs121908338
GWAS Ctlg	rs121908338

GMAF

0.005969

Max Magnitude

1

rs121908338, also known as c.349G>A, p.Asp117Asn and D117N, is a variant in the LDB3 gene on chromosome 10.

Originally published as being inherited as an autosomal dominant, reportedly leading to a form of left ventricular noncompaction, it is now considered to be a benign polymorphism.

See OMIM 605906.0007

OMIM	605906
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908338(A;A) rs121908338(C;C)
Alt	rs121908338(A;A) rs121908338(C;C)
Reference	Rs121908338(G;G)
Significance	Probable-non-pathogenic
Disease	Dilated cardiomyopathy 1C not specified Dilated cardiomyopathy not provided Myofibrillar myopathy
Variation	info
Gene	LDB3
CLNDBN	Dilated cardiomyopathy 1C not specified Dilated cardiomyopathy not provided Myofibrillar myopathy, ZASP-related
Reversed	0
HGVS	NC_000010.10:g.88446830G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004998.4, RCV000036845.5, RCV000172755.1, RCV000224167.1, RCV000234167.1,