rs869312875

Orientation

minus

Stabilized

minus

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

Make rs869312875(-;G)

Make rs869312875(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

116237653

Gene

MED13L

is a	snp
is	mentioned by
dbSNP	rs869312875
dbSNP (classic)	rs869312875
ClinGen	rs869312875
ebi	rs869312875
HLI	rs869312875
Exac	rs869312875
Gnomad	rs869312875
Varsome	rs869312875
LitVar	rs869312875
Map	rs869312875
PheGenI	rs869312875
Biobank	rs869312875
1000 genomes	rs869312875
hgdp	rs869312875
ensembl	rs869312875
geneview	rs869312875
scholar	rs869312875
google	rs869312875
pharmgkb	rs869312875
gwascentral	rs869312875
openSNP	rs869312875
23andMe	rs869312875
SNPshot	rs869312875
SNPdbe	rs869312875
MSV3d	rs869312875
GWAS Ctlg	rs869312875

Max Magnitude

0

ClinVar
Risk	rs869312875(G;G)
Alt	rs869312875(G;G)
Reference	Rs869312875(-;-)
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.116675459dupC
CLNSRC
CLNACC	RCV000209902.1,