rs869025290

Orientation

minus

Stabilized

minus

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

Make rs869025290(-;-)

Make rs869025290(-;C)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

115991189

Gene

MED13L

is a	snp
is	mentioned by
dbSNP	rs869025290
dbSNP (classic)	rs869025290
ClinGen	rs869025290
ebi	rs869025290
HLI	rs869025290
Exac	rs869025290
Gnomad	rs869025290
Varsome	rs869025290
LitVar	rs869025290
Map	rs869025290
PheGenI	rs869025290
Biobank	rs869025290
1000 genomes	rs869025290
hgdp	rs869025290
ensembl	rs869025290
geneview	rs869025290
scholar	rs869025290
google	rs869025290
pharmgkb	rs869025290
gwascentral	rs869025290
openSNP	rs869025290
23andMe	rs869025290
SNPshot	rs869025290
SNPdbe	rs869025290
MSV3d	rs869025290
GWAS Ctlg	rs869025290

Max Magnitude

0

ClinVar
Risk	rs869025290(-;-)
Alt	rs869025290(-;-)
Reference	Rs869025290(C;C)
Significance	Pathogenic
Disease	Mental retardation and distinctive facial features with or without cardiac defects
Variation	info
Gene	MED13L
CLNDBN	Mental retardation and distinctive facial features with or without cardiac defects
Reversed	1
HGVS	NC_000012.11:g.116428994delG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000207262.1,