rs28940280

Orientation

plus

Stabilized

plus

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

Make rs28940280(A;A)

Make rs28940280(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

77000580

Gene	CLN5, FBXL3

is a	snp
is	mentioned by
dbSNP	rs28940280
dbSNP (classic)	rs28940280
ClinGen	rs28940280
ebi	rs28940280
HLI	rs28940280
Exac	rs28940280
Gnomad	rs28940280
Varsome	rs28940280
LitVar	rs28940280
Map	rs28940280
PheGenI	rs28940280
Biobank	rs28940280
1000 genomes	rs28940280
hgdp	rs28940280
ensembl	rs28940280
geneview	rs28940280
scholar	rs28940280
google	rs28940280
pharmgkb	rs28940280
gwascentral	rs28940280
openSNP	rs28940280
23andMe	rs28940280
SNPshot	rs28940280
SNPdbe	rs28940280
MSV3d	rs28940280
GWAS Ctlg	rs28940280

Max Magnitude

0

OMIM	608102
Desc	CEROID LIPOFUSCINOSIS, NEURONAL, 5
Variant	0003
Related	also

ClinVar
Risk	rs28940280(A;A)
Alt	rs28940280(A;A)
Reference	Rs28940280(G;G)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 5
Variation	info
Gene	CLN5
CLNDBN	Ceroid lipofuscinosis neuronal 5
Reversed	0
HGVS	NC_000013.10:g.77574715G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002675.4,