rs879255248

Orientation

minus

Stabilized

minus

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

Make rs879255248(A;A)

Make rs879255248(A;C)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

5696253

Gene

LONP1

is a	snp
is	mentioned by
dbSNP	rs879255248
dbSNP (classic)	rs879255248
ClinGen	rs879255248
ebi	rs879255248
HLI	rs879255248
Exac	rs879255248
Gnomad	rs879255248
Varsome	rs879255248
LitVar	rs879255248
Map	rs879255248
PheGenI	rs879255248
Biobank	rs879255248
1000 genomes	rs879255248
hgdp	rs879255248
ensembl	rs879255248
geneview	rs879255248
scholar	rs879255248
google	rs879255248
pharmgkb	rs879255248
gwascentral	rs879255248
openSNP	rs879255248
23andMe	rs879255248
SNPshot	rs879255248
SNPdbe	rs879255248
MSV3d	rs879255248
GWAS Ctlg	rs879255248

Max Magnitude

0

ClinVar
Risk	rs879255248(A;A)
Alt	rs879255248(A;A)
Reference	Rs879255248(C;C)
Significance	Pathogenic
Disease	CODAS syndrome
Variation	info
Gene	LONP1
CLNDBN	CODAS syndrome
Reversed	1
HGVS	NC_000019.9:g.5696264G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000157622.3,