rs386833637

minus

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

Make rs386833637(-;-)

Make rs386833637(-;CTT)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40092150

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs386833637
dbSNP (classic)	rs386833637
ClinGen	rs386833637
ebi	rs386833637
HLI	rs386833637
Exac	rs386833637
Gnomad	rs386833637
Varsome	rs386833637
LitVar	rs386833637
Map	rs386833637
PheGenI	rs386833637
Biobank	rs386833637
1000 genomes	rs386833637
hgdp	rs386833637
ensembl	rs386833637
geneview	rs386833637
scholar	rs386833637
google	rs386833637
pharmgkb	rs386833637
gwascentral	rs386833637
openSNP	rs386833637
23andMe	rs386833637
SNPshot	rs386833637
SNPdbe	rs386833637
MSV3d	rs386833637
GWAS Ctlg	rs386833637

Max Magnitude

0

ClinVar
Risk	rs386833637(-;-)
Alt	rs386833637(-;-)
Reference	Rs386833637(CTT;CTT)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1
Reversed	1
HGVS	NC_000001.10:g.40557822_40557824delAAG
CLNSRC	ClinVar
CLNACC	RCV000049596.1,

[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.