rs193919334

Orientation

minus

Stabilized

minus

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

Make rs193919334(C;G)

Make rs193919334(G;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

18913492

Gene

PRODH

is a	snp
is	mentioned by
dbSNP	rs193919334
dbSNP (classic)	rs193919334
ClinGen	rs193919334
ebi	rs193919334
HLI	rs193919334
Exac	rs193919334
Gnomad	rs193919334
Varsome	rs193919334
LitVar	rs193919334
Map	rs193919334
PheGenI	rs193919334
Biobank	rs193919334
1000 genomes	rs193919334
hgdp	rs193919334
ensembl	rs193919334
geneview	rs193919334
scholar	rs193919334
google	rs193919334
pharmgkb	rs193919334
gwascentral	rs193919334
openSNP	rs193919334
23andMe	rs193919334
SNPshot	rs193919334
SNPdbe	rs193919334
MSV3d	rs193919334
GWAS Ctlg	rs193919334

Max Magnitude

0

ClinVar
Risk	rs193919334(A;A) rs193919334(G;G) rs193919334(T;T)
Alt	rs193919334(A;A) rs193919334(G;G) rs193919334(T;T)
Reference	Rs193919334(C;C)
Significance	Pathogenic
Disease	Proline dehydrogenase deficiency
Variation	info
Gene	PRODH
CLNDBN	Proline dehydrogenase deficiency
Reversed	1
HGVS	NC_000022.10:g.18901005G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004226.5,