rs730882146

Orientation

plus

Stabilized

plus

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

Make rs730882146(A;A)

Make rs730882146(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

77000680

Gene	CLN5, FBXL3

is a	snp
is	mentioned by
dbSNP	rs730882146
dbSNP (classic)	rs730882146
ClinGen	rs730882146
ebi	rs730882146
HLI	rs730882146
Exac	rs730882146
Gnomad	rs730882146
Varsome	rs730882146
LitVar	rs730882146
Map	rs730882146
PheGenI	rs730882146
Biobank	rs730882146
1000 genomes	rs730882146
hgdp	rs730882146
ensembl	rs730882146
geneview	rs730882146
scholar	rs730882146
google	rs730882146
pharmgkb	rs730882146
gwascentral	rs730882146
openSNP	rs730882146
23andMe	rs730882146
SNPshot	rs730882146
SNPdbe	rs730882146
MSV3d	rs730882146
GWAS Ctlg	rs730882146

Max Magnitude

0

ClinVar
Risk	rs730882146(A;A)
Alt	rs730882146(A;A)
Reference	Rs730882146(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.77574815G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000161918.3,