rs1057516766

Orientation

minus

Stabilized

minus

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

Make rs1057516766(-;-)

Make rs1057516766(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50084767

Gene

MLC1

is a	snp
is	mentioned by
dbSNP	rs1057516766
dbSNP (classic)	rs1057516766
ClinGen	rs1057516766
ebi	rs1057516766
HLI	rs1057516766
Exac	rs1057516766
Gnomad	rs1057516766
Varsome	rs1057516766
LitVar	rs1057516766
Map	rs1057516766
PheGenI	rs1057516766
Biobank	rs1057516766
1000 genomes	rs1057516766
hgdp	rs1057516766
ensembl	rs1057516766
geneview	rs1057516766
scholar	rs1057516766
google	rs1057516766
pharmgkb	rs1057516766
gwascentral	rs1057516766
openSNP	rs1057516766
23andMe	rs1057516766
SNPshot	rs1057516766
SNPdbe	rs1057516766
MSV3d	rs1057516766
GWAS Ctlg	rs1057516766

Max Magnitude

0

ClinVar
Risk	rs1057516766(-;-)
Alt	rs1057516766(-;-)
Reference	Rs1057516766(T;T)
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.50523196delA
CLNSRC
CLNACC	RCV000410132.1,