rs121909118

Orientation

minus

Stabilized

minus

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

Make rs121909118(C;T)

Make rs121909118(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

76174276

Gene

SCARB2

is a	snp
is	mentioned by
dbSNP	rs121909118
dbSNP (classic)	rs121909118
ClinGen	rs121909118
ebi	rs121909118
HLI	rs121909118
Exac	rs121909118
Gnomad	rs121909118
Varsome	rs121909118
LitVar	rs121909118
Map	rs121909118
PheGenI	rs121909118
Biobank	rs121909118
1000 genomes	rs121909118
hgdp	rs121909118
ensembl	rs121909118
geneview	rs121909118
scholar	rs121909118
google	rs121909118
pharmgkb	rs121909118
gwascentral	rs121909118
openSNP	rs121909118
23andMe	rs121909118
SNPshot	rs121909118
SNPdbe	rs121909118
MSV3d	rs121909118
GWAS Ctlg	rs121909118

Max Magnitude

0

OMIM	602257
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121909118(T;T)
Alt	rs121909118(T;T)
Reference	Rs121909118(C;C)
Significance	Pathogenic
Disease	Epilepsy not provided
Variation	info
Gene	SCARB2
CLNDBN	Epilepsy, progressive myoclonic 4, with or without renal failure not provided
Reversed	1
HGVS	NC_000004.11:g.77095429G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007803.3, RCV000488955.1,