rs879255247

Orientation

minus

Stabilized

minus

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

Make rs879255247(C;T)

Make rs879255247(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

5694889

Gene

LONP1

is a	snp
is	mentioned by
dbSNP	rs879255247
dbSNP (classic)	rs879255247
ClinGen	rs879255247
ebi	rs879255247
HLI	rs879255247
Exac	rs879255247
Gnomad	rs879255247
Varsome	rs879255247
LitVar	rs879255247
Map	rs879255247
PheGenI	rs879255247
Biobank	rs879255247
1000 genomes	rs879255247
hgdp	rs879255247
ensembl	rs879255247
geneview	rs879255247
scholar	rs879255247
google	rs879255247
pharmgkb	rs879255247
gwascentral	rs879255247
openSNP	rs879255247
23andMe	rs879255247
SNPshot	rs879255247
SNPdbe	rs879255247
MSV3d	rs879255247
GWAS Ctlg	rs879255247

Max Magnitude

0

ClinVar
Risk	rs879255247(T;T)
Alt	rs879255247(T;T)
Reference	Rs879255247(C;C)
Significance	Pathogenic
Disease	CODAS syndrome
Variation	info
Gene	LONP1
CLNDBN	CODAS syndrome
Reversed	1
HGVS	NC_000019.9:g.5694900G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000157621.3,