rs28940310

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0
(G;G)	0	common in clinvar

Make rs28940310(A;A)

Make rs28940310(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

115975287

Gene

MED13L

is a	snp
is	mentioned by
dbSNP	rs28940310
dbSNP (classic)	rs28940310
ClinGen	rs28940310
ebi	rs28940310
HLI	rs28940310
Exac	rs28940310
Gnomad	rs28940310
Varsome	rs28940310
LitVar	rs28940310
Map	rs28940310
PheGenI	rs28940310
Biobank	rs28940310
1000 genomes	rs28940310
hgdp	rs28940310
ensembl	rs28940310
geneview	rs28940310
scholar	rs28940310
google	rs28940310
pharmgkb	rs28940310
gwascentral	rs28940310
openSNP	rs28940310
23andMe	rs28940310
SNPshot	rs28940310
SNPdbe	rs28940310
MSV3d	rs28940310
GWAS Ctlg	rs28940310

Max Magnitude

0

OMIM	608771
Desc	TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED
Variant	0002
Related	also

ClinVar
Risk	rs28940310(A;A)
Alt	rs28940310(A;A)
Reference	Rs28940310(G;G)
Significance	Pathogenic
Disease	Transposition of the great arteries
Variation	info
Gene	MED13L
CLNDBN	Transposition of the great arteries, dextro-looped 1
Reversed	1
HGVS	NC_000012.11:g.116413092C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002188.3,