rs1057516220

Orientation

plus

Stabilized

plus

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

Make rs1057516220(-;-)

Make rs1057516220(-;TC)

Reference

GRCh38.p7 38.3/150

Chromosome

13

Position

76992231

Gene	CLN5, FBXL3

is a	snp
is	mentioned by
dbSNP	rs1057516220
dbSNP (classic)	rs1057516220
ClinGen	rs1057516220
ebi	rs1057516220
HLI	rs1057516220
Exac	rs1057516220
Gnomad	rs1057516220
Varsome	rs1057516220
LitVar	rs1057516220
Map	rs1057516220
PheGenI	rs1057516220
Biobank	rs1057516220
1000 genomes	rs1057516220
hgdp	rs1057516220
ensembl	rs1057516220
geneview	rs1057516220
scholar	rs1057516220
google	rs1057516220
pharmgkb	rs1057516220
gwascentral	rs1057516220
openSNP	rs1057516220
23andMe	rs1057516220
SNPshot	rs1057516220
SNPdbe	rs1057516220
MSV3d	rs1057516220
GWAS Ctlg	rs1057516220

Max Magnitude

0

ClinVar
Risk	rs1057516220(-;-)
Alt	rs1057516220(-;-)
Reference	Rs1057516220(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.77566366_77566367delTC
CLNSRC
CLNACC	RCV000409209.1,