rs786204747

Orientation

minus

Stabilized

minus

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

Make rs786204747(-;-)

Make rs786204747(-;T)

Reference

GRCh38.p2 38.2/146

Chromosome

22

Position

50080017

Gene

MLC1

is a	snp
is	mentioned by
dbSNP	rs786204747
dbSNP (classic)	rs786204747
ClinGen	rs786204747
ebi	rs786204747
HLI	rs786204747
Exac	rs786204747
Gnomad	rs786204747
Varsome	rs786204747
LitVar	rs786204747
Map	rs786204747
PheGenI	rs786204747
Biobank	rs786204747
1000 genomes	rs786204747
hgdp	rs786204747
ensembl	rs786204747
geneview	rs786204747
scholar	rs786204747
google	rs786204747
pharmgkb	rs786204747
gwascentral	rs786204747
openSNP	rs786204747
23andMe	rs786204747
SNPshot	rs786204747
SNPdbe	rs786204747
MSV3d	rs786204747
GWAS Ctlg	rs786204747

Max Magnitude

0

ClinVar
Risk	rs786204747(-;-)
Alt	rs786204747(-;-)
Reference	Rs786204747(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.50518446delA
CLNSRC
CLNACC	RCV000169597.1,