rs869312751

Orientation

plus

Stabilized

plus

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

Make rs869312751(C;T)

Make rs869312751(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

13

Position

76996109

Gene	CLN5, FBXL3

is a	snp
is	mentioned by
dbSNP	rs869312751
dbSNP (classic)	rs869312751
ClinGen	rs869312751
ebi	rs869312751
HLI	rs869312751
Exac	rs869312751
Gnomad	rs869312751
Varsome	rs869312751
LitVar	rs869312751
Map	rs869312751
PheGenI	rs869312751
Biobank	rs869312751
1000 genomes	rs869312751
hgdp	rs869312751
ensembl	rs869312751
geneview	rs869312751
scholar	rs869312751
google	rs869312751
pharmgkb	rs869312751
gwascentral	rs869312751
openSNP	rs869312751
23andMe	rs869312751
SNPshot	rs869312751
SNPdbe	rs869312751
MSV3d	rs869312751
GWAS Ctlg	rs869312751

Max Magnitude

0

ClinVar
Risk	rs869312751(T;T)
Alt	rs869312751(T;T)
Reference	Rs869312751(C;C)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 5
Variation	info
Gene	CLN5
CLNDBN	Ceroid lipofuscinosis neuronal 5
Reversed	0
HGVS	NC_000013.10:g.77570244C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210062.3,