rs28940309

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(T;T)	0

Make rs28940309(A;G)

Make rs28940309(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

116019846

Gene

MED13L

is a	snp
is	mentioned by
dbSNP	rs28940309
dbSNP (classic)	rs28940309
ClinGen	rs28940309
ebi	rs28940309
HLI	rs28940309
Exac	rs28940309
Gnomad	rs28940309
Varsome	rs28940309
LitVar	rs28940309
Map	rs28940309
PheGenI	rs28940309
Biobank	rs28940309
1000 genomes	rs28940309
hgdp	rs28940309
ensembl	rs28940309
geneview	rs28940309
scholar	rs28940309
google	rs28940309
pharmgkb	rs28940309
gwascentral	rs28940309
openSNP	rs28940309
23andMe	rs28940309
SNPshot	rs28940309
SNPdbe	rs28940309
MSV3d	rs28940309
GWAS Ctlg	rs28940309

Max Magnitude

0

OMIM	608771
Desc	TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED
Variant	0001
Related	also

ClinVar
Risk	rs28940309(G;G)
Alt	rs28940309(G;G)
Reference	Rs28940309(A;A)
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.116457651T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002187.3,