rs1057516286

Orientation

minus

Stabilized

minus

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

Make rs1057516286(-;A)

Make rs1057516286(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50084819

Gene

MLC1

is a	snp
is	mentioned by
dbSNP	rs1057516286
dbSNP (classic)	rs1057516286
ClinGen	rs1057516286
ebi	rs1057516286
HLI	rs1057516286
Exac	rs1057516286
Gnomad	rs1057516286
Varsome	rs1057516286
LitVar	rs1057516286
Map	rs1057516286
PheGenI	rs1057516286
Biobank	rs1057516286
1000 genomes	rs1057516286
hgdp	rs1057516286
ensembl	rs1057516286
geneview	rs1057516286
scholar	rs1057516286
google	rs1057516286
pharmgkb	rs1057516286
gwascentral	rs1057516286
openSNP	rs1057516286
23andMe	rs1057516286
SNPshot	rs1057516286
SNPdbe	rs1057516286
MSV3d	rs1057516286
GWAS Ctlg	rs1057516286

Max Magnitude

0

ClinVar
Risk	rs1057516286(A;A)
Alt	rs1057516286(A;A)
Reference	Rs1057516286(-;-)
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.50523249dupT
CLNSRC
CLNACC	RCV000411151.1,