rs121908344

Orientation

minus

Stabilized

minus

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

Make rs121908344(A;G)

Make rs121908344(G;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50079919

Gene

MLC1

is a	snp
is	mentioned by
dbSNP	rs121908344
dbSNP (classic)	rs121908344
ClinGen	rs121908344
ebi	rs121908344
HLI	rs121908344
Exac	rs121908344
Gnomad	rs121908344
Varsome	rs121908344
LitVar	rs121908344
Map	rs121908344
PheGenI	rs121908344
Biobank	rs121908344
1000 genomes	rs121908344
hgdp	rs121908344
ensembl	rs121908344
geneview	rs121908344
scholar	rs121908344
google	rs121908344
pharmgkb	rs121908344
gwascentral	rs121908344
openSNP	rs121908344
23andMe	rs121908344
SNPshot	rs121908344
SNPdbe	rs121908344
MSV3d	rs121908344
GWAS Ctlg	rs121908344

Max Magnitude

0

OMIM	605908
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908344(G;G)
Alt	rs121908344(G;G)
Reference	Rs121908344(A;A)
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.50518348T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004983.3,