rs121909051

Orientation

plus

Stabilized

plus

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

Make rs121909051(C;C)

Make rs121909051(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

167789273

Gene

SERPINI1

is a	snp
is	mentioned by
dbSNP	rs121909051
dbSNP (classic)	rs121909051
ClinGen	rs121909051
ebi	rs121909051
HLI	rs121909051
Exac	rs121909051
Gnomad	rs121909051
Varsome	rs121909051
LitVar	rs121909051
Map	rs121909051
PheGenI	rs121909051
Biobank	rs121909051
1000 genomes	rs121909051
hgdp	rs121909051
ensembl	rs121909051
geneview	rs121909051
scholar	rs121909051
google	rs121909051
pharmgkb	rs121909051
gwascentral	rs121909051
openSNP	rs121909051
23andMe	rs121909051
SNPshot	rs121909051
SNPdbe	rs121909051
MSV3d	rs121909051
GWAS Ctlg	rs121909051

Max Magnitude

0

OMIM	602445
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909051(C;C)
Alt	rs121909051(C;C)
Reference	Rs121909051(T;T)
Significance	Pathogenic
Disease	Encephalopathy
Variation	info
Gene	SERPINI1
CLNDBN	Encephalopathy, familial, with neuroserpin inclusion bodies
Reversed	0
HGVS	NC_000003.11:g.167507061T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007502.3,