rs137852699

Orientation

minus

Stabilized

minus

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

Make rs137852699(A;A)

Make rs137852699(A;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40097210

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs137852699
dbSNP (classic)	rs137852699
ClinGen	rs137852699
ebi	rs137852699
HLI	rs137852699
Exac	rs137852699
Gnomad	rs137852699
Varsome	rs137852699
LitVar	rs137852699
Map	rs137852699
PheGenI	rs137852699
Biobank	rs137852699
1000 genomes	rs137852699
hgdp	rs137852699
ensembl	rs137852699
geneview	rs137852699
scholar	rs137852699
google	rs137852699
pharmgkb	rs137852699
gwascentral	rs137852699
openSNP	rs137852699
23andMe	rs137852699
SNPshot	rs137852699
SNPdbe	rs137852699
MSV3d	rs137852699
GWAS Ctlg	rs137852699

Max Magnitude

0

OMIM	600722
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852699(A;A)
Alt	rs137852699(A;A)
Reference	Rs137852699(T;T)
Significance	Other
Disease	Ceroid lipofuscinosis neuronal 1 not provided
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1 not provided
Reversed	1
HGVS	NC_000001.10:g.40562882A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009454.4, RCV000188716.2,