rs1057517134

Orientation

plus

Stabilized

plus

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

Make rs1057517134(-;-)

Make rs1057517134(-;ACTGGCCGGTGCC)

Make rs1057517134(ACTGGCCGGTGCC;ACTGGCCGGTGCC)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

76992253

Gene	CLN5, FBXL3

is a	snp
is	mentioned by
dbSNP	rs1057517134
dbSNP (classic)	rs1057517134
ClinGen	rs1057517134
ebi	rs1057517134
HLI	rs1057517134
Exac	rs1057517134
Gnomad	rs1057517134
Varsome	rs1057517134
LitVar	rs1057517134
Map	rs1057517134
PheGenI	rs1057517134
Biobank	rs1057517134
1000 genomes	rs1057517134
hgdp	rs1057517134
ensembl	rs1057517134
geneview	rs1057517134
scholar	rs1057517134
google	rs1057517134
pharmgkb	rs1057517134
gwascentral	rs1057517134
openSNP	rs1057517134
23andMe	rs1057517134
SNPshot	rs1057517134
SNPdbe	rs1057517134
MSV3d	rs1057517134
GWAS Ctlg	rs1057517134

Max Magnitude

0

ClinVar
Risk	rs1057517134(-;-)
Alt	rs1057517134(-;-)
Reference	Rs1057517134(GCCACTGGCCGGT;GCCACTGGCCGGT)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 5
Variation	info
Gene	CLN5
CLNDBN	Ceroid lipofuscinosis neuronal 5
Reversed	0
HGVS	NC_000013.10:g.77566388_77566400delACTGGCCGGTGCC
CLNSRC
CLNACC	RCV000410399.1,