rs121908341

Orientation

minus

Stabilized

minus

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

Make rs121908341(C;T)

Make rs121908341(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50068488

Gene

MLC1

is a	snp
is	mentioned by
dbSNP	rs121908341
dbSNP (classic)	rs121908341
ClinGen	rs121908341
ebi	rs121908341
HLI	rs121908341
Exac	rs121908341
Gnomad	rs121908341
Varsome	rs121908341
LitVar	rs121908341
Map	rs121908341
PheGenI	rs121908341
Biobank	rs121908341
1000 genomes	rs121908341
hgdp	rs121908341
ensembl	rs121908341
geneview	rs121908341
scholar	rs121908341
google	rs121908341
pharmgkb	rs121908341
gwascentral	rs121908341
openSNP	rs121908341
23andMe	rs121908341
SNPshot	rs121908341
SNPdbe	rs121908341
MSV3d	rs121908341
GWAS Ctlg	rs121908341

Max Magnitude

0

OMIM	605908
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908341(T;T)
Alt	rs121908341(T;T)
Reference	Rs121908341(C;C)
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.50506917G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004978.2,