rs1057516465

Orientation

minus

Stabilized

minus

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

Make rs1057516465(C;T)

Make rs1057516465(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50064120

Gene

MLC1

is a	snp
is	mentioned by
dbSNP	rs1057516465
dbSNP (classic)	rs1057516465
ClinGen	rs1057516465
ebi	rs1057516465
HLI	rs1057516465
Exac	rs1057516465
Gnomad	rs1057516465
Varsome	rs1057516465
LitVar	rs1057516465
Map	rs1057516465
PheGenI	rs1057516465
Biobank	rs1057516465
1000 genomes	rs1057516465
hgdp	rs1057516465
ensembl	rs1057516465
geneview	rs1057516465
scholar	rs1057516465
google	rs1057516465
pharmgkb	rs1057516465
gwascentral	rs1057516465
openSNP	rs1057516465
23andMe	rs1057516465
SNPshot	rs1057516465
SNPdbe	rs1057516465
MSV3d	rs1057516465
GWAS Ctlg	rs1057516465

Max Magnitude

0

ClinVar
Risk	rs1057516465(T;T)
Alt	rs1057516465(T;T)
Reference	Rs1057516465(C;C)
Significance	Probable-Pathogenic
Disease	Megalencephalic leukoencephalopathy with subcortical cysts 1
Variation	info
Gene	MLC1
CLNDBN	Megalencephalic leukoencephalopathy with subcortical cysts 1
Reversed	1
HGVS	NC_000022.10:g.50502549G>A
CLNSRC
CLNACC	RCV000409034.1,