rs1057516814

Orientation

plus

Stabilized

plus

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

Make rs1057516814(G;G)

Make rs1057516814(G;TC)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

76992171

Gene	CLN5, FBXL3

is a	snp
is	mentioned by
dbSNP	rs1057516814
dbSNP (classic)	rs1057516814
ClinGen	rs1057516814
ebi	rs1057516814
HLI	rs1057516814
Exac	rs1057516814
Gnomad	rs1057516814
Varsome	rs1057516814
LitVar	rs1057516814
Map	rs1057516814
PheGenI	rs1057516814
Biobank	rs1057516814
1000 genomes	rs1057516814
hgdp	rs1057516814
ensembl	rs1057516814
geneview	rs1057516814
scholar	rs1057516814
google	rs1057516814
pharmgkb	rs1057516814
gwascentral	rs1057516814
openSNP	rs1057516814
23andMe	rs1057516814
SNPshot	rs1057516814
SNPdbe	rs1057516814
MSV3d	rs1057516814
GWAS Ctlg	rs1057516814

Max Magnitude

0

ClinVar
Risk	rs1057516814(G;G)
Alt	rs1057516814(G;G)
Reference	Rs1057516814(TC;TC)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 5
Variation	info
Gene	CLN5
CLNDBN	Ceroid lipofuscinosis neuronal 5
Reversed	0
HGVS	NC_000013.10:g.77566306_77566307delTCinsG
CLNSRC
CLNACC	RCV000410812.1,