rs757386104

Orientation

plus

Stabilized

plus

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

Make rs757386104(-;-)

Make rs757386104(-;TCC)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

33387465

Gene

PEPD

is a	snp
is	mentioned by
dbSNP	rs757386104
dbSNP (classic)	rs757386104
ClinGen	rs757386104
ebi	rs757386104
HLI	rs757386104
Exac	rs757386104
Gnomad	rs757386104
Varsome	rs757386104
LitVar	rs757386104
Map	rs757386104
PheGenI	rs757386104
Biobank	rs757386104
1000 genomes	rs757386104
hgdp	rs757386104
ensembl	rs757386104
geneview	rs757386104
scholar	rs757386104
google	rs757386104
pharmgkb	rs757386104
gwascentral	rs757386104
openSNP	rs757386104
23andMe	rs757386104
SNPshot	rs757386104
SNPdbe	rs757386104
MSV3d	rs757386104
GWAS Ctlg	rs757386104

Max Magnitude

0

ClinVar
Risk	rs757386104(-;-)
Alt	rs757386104(-;-)
Reference	Rs757386104(TCC;TCC)
Significance	Pathogenic
Disease	Prolidase deficiency
Variation	info
Gene	PEPD
CLNDBN	Prolidase deficiency
Reversed	0
HGVS	NC_000019.9:g.33878371_33878373delTCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000238.5,