rs1057518705

Orientation

minus

Stabilized

minus

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

Make rs1057518705(A;C)

Make rs1057518705(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

12

Position

115982605

Gene

MED13L

is a	snp
is	mentioned by
dbSNP	rs1057518705
dbSNP (classic)	rs1057518705
ClinGen	rs1057518705
ebi	rs1057518705
HLI	rs1057518705
Exac	rs1057518705
Gnomad	rs1057518705
Varsome	rs1057518705
LitVar	rs1057518705
Map	rs1057518705
PheGenI	rs1057518705
Biobank	rs1057518705
1000 genomes	rs1057518705
hgdp	rs1057518705
ensembl	rs1057518705
geneview	rs1057518705
scholar	rs1057518705
google	rs1057518705
pharmgkb	rs1057518705
gwascentral	rs1057518705
openSNP	rs1057518705
23andMe	rs1057518705
SNPshot	rs1057518705
SNPdbe	rs1057518705
MSV3d	rs1057518705
GWAS Ctlg	rs1057518705

Max Magnitude

0

ClinVar
Risk	rs1057518705(C;C)
Alt	rs1057518705(C;C)
Reference	Rs1057518705(A;A)
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.116420410T>G
CLNSRC
CLNACC	RCV000415412.1,