rs121908343

Orientation

minus

Stabilized

minus

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

Make rs121908343(A;A)

Make rs121908343(A;C)

Reference

GRCh38 38.1/141

Chromosome

22

Position

50079918

Gene

MLC1

is a	snp
is	mentioned by
dbSNP	rs121908343
dbSNP (classic)	rs121908343
ClinGen	rs121908343
ebi	rs121908343
HLI	rs121908343
Exac	rs121908343
Gnomad	rs121908343
Varsome	rs121908343
LitVar	rs121908343
Map	rs121908343
PheGenI	rs121908343
Biobank	rs121908343
1000 genomes	rs121908343
hgdp	rs121908343
ensembl	rs121908343
geneview	rs121908343
scholar	rs121908343
google	rs121908343
pharmgkb	rs121908343
gwascentral	rs121908343
openSNP	rs121908343
23andMe	rs121908343
SNPshot	rs121908343
SNPdbe	rs121908343
MSV3d	rs121908343
GWAS Ctlg	rs121908343

Max Magnitude

0

OMIM	605908
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121908343(A;A)
Alt	rs121908343(A;A)
Reference	Rs121908343(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.50518347G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004982.3,