rs869025289

Orientation

minus

Stabilized

minus

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

Make rs869025289(-;-)

Make rs869025289(-;TC)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

115970711

Gene

MED13L

is a	snp
is	mentioned by
dbSNP	rs869025289
dbSNP (classic)	rs869025289
ClinGen	rs869025289
ebi	rs869025289
HLI	rs869025289
Exac	rs869025289
Gnomad	rs869025289
Varsome	rs869025289
LitVar	rs869025289
Map	rs869025289
PheGenI	rs869025289
Biobank	rs869025289
1000 genomes	rs869025289
hgdp	rs869025289
ensembl	rs869025289
geneview	rs869025289
scholar	rs869025289
google	rs869025289
pharmgkb	rs869025289
gwascentral	rs869025289
openSNP	rs869025289
23andMe	rs869025289
SNPshot	rs869025289
SNPdbe	rs869025289
MSV3d	rs869025289
GWAS Ctlg	rs869025289

Max Magnitude

0

ClinVar
Risk	rs869025289(-;-)
Alt	rs869025289(-;-)
Reference	Rs869025289(TC;TC)
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.116408516_116408517delGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000207139.1,