rs1057517375

Orientation

minus

Stabilized

minus

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

Make rs1057517375(-;-)

Make rs1057517375(-;TG)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50074305

Gene

MLC1

is a	snp
is	mentioned by
dbSNP	rs1057517375
dbSNP (classic)	rs1057517375
ClinGen	rs1057517375
ebi	rs1057517375
HLI	rs1057517375
Exac	rs1057517375
Gnomad	rs1057517375
Varsome	rs1057517375
LitVar	rs1057517375
Map	rs1057517375
PheGenI	rs1057517375
Biobank	rs1057517375
1000 genomes	rs1057517375
hgdp	rs1057517375
ensembl	rs1057517375
geneview	rs1057517375
scholar	rs1057517375
google	rs1057517375
pharmgkb	rs1057517375
gwascentral	rs1057517375
openSNP	rs1057517375
23andMe	rs1057517375
SNPshot	rs1057517375
SNPdbe	rs1057517375
MSV3d	rs1057517375
GWAS Ctlg	rs1057517375

Max Magnitude

0

ClinVar
Risk	rs1057517375(-;-)
Alt	rs1057517375(-;-)
Reference	Rs1057517375(TG;TG)
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.50512734_50512735delCA
CLNSRC
CLNACC	RCV000410276.1,