rs1057516390

Orientation

plus

Stabilized

plus

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

Make rs1057516390(-;-)

Make rs1057516390(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

76995901

Gene	CLN5, FBXL3

is a	snp
is	mentioned by
dbSNP	rs1057516390
dbSNP (classic)	rs1057516390
ClinGen	rs1057516390
ebi	rs1057516390
HLI	rs1057516390
Exac	rs1057516390
Gnomad	rs1057516390
Varsome	rs1057516390
LitVar	rs1057516390
Map	rs1057516390
PheGenI	rs1057516390
Biobank	rs1057516390
1000 genomes	rs1057516390
hgdp	rs1057516390
ensembl	rs1057516390
geneview	rs1057516390
scholar	rs1057516390
google	rs1057516390
pharmgkb	rs1057516390
gwascentral	rs1057516390
openSNP	rs1057516390
23andMe	rs1057516390
SNPshot	rs1057516390
SNPdbe	rs1057516390
MSV3d	rs1057516390
GWAS Ctlg	rs1057516390

Max Magnitude

0

ClinVar
Risk	rs1057516390(-;-)
Alt	rs1057516390(-;-)
Reference	Rs1057516390(G;G)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 5
Variation	info
Gene	CLN5
CLNDBN	Ceroid lipofuscinosis neuronal 5
Reversed	0
HGVS	NC_000013.10:g.77570036delG
CLNSRC
CLNACC	RCV000409719.1,