rs747204624

Orientation

plus

Stabilized

plus

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

Make rs747204624(G;T)

Make rs747204624(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

40097231

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs747204624
dbSNP (classic)	rs747204624
ClinGen	rs747204624
ebi	rs747204624
HLI	rs747204624
Exac	rs747204624
Gnomad	rs747204624
Varsome	rs747204624
LitVar	rs747204624
Map	rs747204624
PheGenI	rs747204624
Biobank	rs747204624
1000 genomes	rs747204624
hgdp	rs747204624
ensembl	rs747204624
geneview	rs747204624
scholar	rs747204624
google	rs747204624
pharmgkb	rs747204624
gwascentral	rs747204624
openSNP	rs747204624
23andMe	rs747204624
SNPshot	rs747204624
SNPdbe	rs747204624
MSV3d	rs747204624
GWAS Ctlg	rs747204624

Max Magnitude

0

ClinVar
Risk	rs747204624(A;A) rs747204624(T;T)
Alt	rs747204624(A;A) rs747204624(T;T)
Reference	Rs747204624(G;G)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1
Reversed	0
HGVS	NC_000001.10:g.40562903G>T
CLNSRC
CLNACC	RCV000410504.1,