rs794728008

Orientation

minus

Stabilized

minus

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

Make rs794728008(-;AGGCCCACCGTGA)

Make rs794728008(AGGCCCACCGTGA;AGGCCCACCGTGA)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

33463987

Gene

PEPD

is a	snp
is	mentioned by
dbSNP	rs794728008
dbSNP (classic)	rs794728008
ClinGen	rs794728008
ebi	rs794728008
HLI	rs794728008
Exac	rs794728008
Gnomad	rs794728008
Varsome	rs794728008
LitVar	rs794728008
Map	rs794728008
PheGenI	rs794728008
Biobank	rs794728008
1000 genomes	rs794728008
hgdp	rs794728008
ensembl	rs794728008
geneview	rs794728008
scholar	rs794728008
google	rs794728008
pharmgkb	rs794728008
gwascentral	rs794728008
openSNP	rs794728008
23andMe	rs794728008
SNPshot	rs794728008
SNPdbe	rs794728008
MSV3d	rs794728008
GWAS Ctlg	rs794728008

Max Magnitude

0

ClinVar
Risk	rs794728008(AGGCCCACCGTGA;AGGCCCACCGTGA)
Alt	rs794728008(AGGCCCACCGTGA;AGGCCCACCGTGA)
Reference	Rs794728008(-;-)
Significance	Pathogenic
Disease	Prolidase deficiency
Variation	info
Gene	PEPD
CLNDBN	Prolidase deficiency
Reversed	1
HGVS	NC_000019.9:g.33954894_33954906dupTCACGGTGGGCCT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000241.2,