rs1057517228

Orientation

minus

Stabilized

minus

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

Make rs1057517228(C;T)

Make rs1057517228(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

22

Position

50084836

Gene

MLC1

is a	snp
is	mentioned by
dbSNP	rs1057517228
dbSNP (classic)	rs1057517228
ClinGen	rs1057517228
ebi	rs1057517228
HLI	rs1057517228
Exac	rs1057517228
Gnomad	rs1057517228
Varsome	rs1057517228
LitVar	rs1057517228
Map	rs1057517228
PheGenI	rs1057517228
Biobank	rs1057517228
1000 genomes	rs1057517228
hgdp	rs1057517228
ensembl	rs1057517228
geneview	rs1057517228
scholar	rs1057517228
google	rs1057517228
pharmgkb	rs1057517228
gwascentral	rs1057517228
openSNP	rs1057517228
23andMe	rs1057517228
SNPshot	rs1057517228
SNPdbe	rs1057517228
MSV3d	rs1057517228
GWAS Ctlg	rs1057517228

Max Magnitude

0

ClinVar
Risk	rs1057517228(T;T)
Alt	rs1057517228(T;T)
Reference	Rs1057517228(C;C)
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.50523265G>A
CLNSRC
CLNACC	RCV000410294.1,