rs121909119

Orientation

minus

Stabilized

minus

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

Make rs121909119(A;A)

Make rs121909119(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

76179596

Gene

SCARB2

is a	snp
is	mentioned by
dbSNP	rs121909119
dbSNP (classic)	rs121909119
ClinGen	rs121909119
ebi	rs121909119
HLI	rs121909119
Exac	rs121909119
Gnomad	rs121909119
Varsome	rs121909119
LitVar	rs121909119
Map	rs121909119
PheGenI	rs121909119
Biobank	rs121909119
1000 genomes	rs121909119
hgdp	rs121909119
ensembl	rs121909119
geneview	rs121909119
scholar	rs121909119
google	rs121909119
pharmgkb	rs121909119
gwascentral	rs121909119
openSNP	rs121909119
23andMe	rs121909119
SNPshot	rs121909119
SNPdbe	rs121909119
MSV3d	rs121909119
GWAS Ctlg	rs121909119

Max Magnitude

0

OMIM	602257
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121909119(A;A)
Alt	rs121909119(A;A)
Reference	Rs121909119(G;G)
Significance	Pathogenic
Disease	Epilepsy
Variation	info
Gene	SCARB2
CLNDBN	Epilepsy, progressive myoclonic 4, with or without renal failure
Reversed	1
HGVS	NC_000004.11:g.77100749C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007804.3,