rs730880293

Orientation

minus

Stabilized

minus

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

Make rs730880293(A;G)

Make rs730880293(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

19

Position

5693737

Gene

LONP1

is a	snp
is	mentioned by
dbSNP	rs730880293
dbSNP (classic)	rs730880293
ClinGen	rs730880293
ebi	rs730880293
HLI	rs730880293
Exac	rs730880293
Gnomad	rs730880293
Varsome	rs730880293
LitVar	rs730880293
Map	rs730880293
PheGenI	rs730880293
Biobank	rs730880293
1000 genomes	rs730880293
hgdp	rs730880293
ensembl	rs730880293
geneview	rs730880293
scholar	rs730880293
google	rs730880293
pharmgkb	rs730880293
gwascentral	rs730880293
openSNP	rs730880293
23andMe	rs730880293
SNPshot	rs730880293
SNPdbe	rs730880293
MSV3d	rs730880293
GWAS Ctlg	rs730880293

Max Magnitude

0

ClinVar
Risk	rs730880293(G;G)
Alt	rs730880293(G;G)
Reference	Rs730880293(A;A)
Significance	Pathogenic
Disease	CODAS syndrome
Variation	info
Gene	LONP1
CLNDBN	CODAS syndrome
Reversed	1
HGVS	NC_000019.9:g.5693748T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000157620.3,