rs1057517090

Orientation

minus

Stabilized

minus

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

Make rs1057517090(-;-)

Make rs1057517090(-;TCCTGCT)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50077471

Gene

MLC1

is a	snp
is	mentioned by
dbSNP	rs1057517090
dbSNP (classic)	rs1057517090
ClinGen	rs1057517090
ebi	rs1057517090
HLI	rs1057517090
Exac	rs1057517090
Gnomad	rs1057517090
Varsome	rs1057517090
LitVar	rs1057517090
Map	rs1057517090
PheGenI	rs1057517090
Biobank	rs1057517090
1000 genomes	rs1057517090
hgdp	rs1057517090
ensembl	rs1057517090
geneview	rs1057517090
scholar	rs1057517090
google	rs1057517090
pharmgkb	rs1057517090
gwascentral	rs1057517090
openSNP	rs1057517090
23andMe	rs1057517090
SNPshot	rs1057517090
SNPdbe	rs1057517090
MSV3d	rs1057517090
GWAS Ctlg	rs1057517090

Max Magnitude

0

ClinVar
Risk	rs1057517090(-;-)
Alt	rs1057517090(-;-)
Reference	Rs1057517090(TCCTGCT;TCCTGCT)
Significance	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.50515900_50515906delAGCAGGA
CLNSRC
CLNACC	RCV000412051.1,