rs104894385

Orientation

plus

Stabilized

plus

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

Make rs104894385(A;A)

Make rs104894385(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

76992176

Gene	CLN5, FBXL3

is a	snp
is	mentioned by
dbSNP	rs104894385
dbSNP (classic)	rs104894385
ClinGen	rs104894385
ebi	rs104894385
HLI	rs104894385
Exac	rs104894385
Gnomad	rs104894385
Varsome	rs104894385
LitVar	rs104894385
Map	rs104894385
PheGenI	rs104894385
Biobank	rs104894385
1000 genomes	rs104894385
hgdp	rs104894385
ensembl	rs104894385
geneview	rs104894385
scholar	rs104894385
google	rs104894385
pharmgkb	rs104894385
gwascentral	rs104894385
openSNP	rs104894385
23andMe	rs104894385
SNPshot	rs104894385
SNPdbe	rs104894385
MSV3d	rs104894385
GWAS Ctlg	rs104894385

Max Magnitude

0

OMIM	608102
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894385(A;A) rs104894385(T;T)
Alt	rs104894385(A;A) rs104894385(T;T)
Reference	Rs104894385(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.77566311G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002674.5,