rs193303001

Orientation

plus

Stabilized

plus

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

Make rs193303001(A;G)

Make rs193303001(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

15923

is a	snp
is	mentioned by
dbSNP	rs193303001
dbSNP (classic)	rs193303001
ClinGen	rs193303001
ebi	rs193303001
HLI	rs193303001
Exac	rs193303001
Gnomad	rs193303001
Varsome	rs193303001
LitVar	rs193303001
Map	rs193303001
PheGenI	rs193303001
Biobank	rs193303001
1000 genomes	rs193303001
hgdp	rs193303001
ensembl	rs193303001
geneview	rs193303001
scholar	rs193303001
google	rs193303001
pharmgkb	rs193303001
gwascentral	rs193303001
openSNP	rs193303001
23andMe	rs193303001
SNPshot	rs193303001
SNPdbe	rs193303001
MSV3d	rs193303001
GWAS Ctlg	rs193303001

Max Magnitude

0

ClinVar
Risk	rs193303001(G;G)
Alt	rs193303001(G;G)
Reference	Rs193303001(A;A)
Significance	Pathogenic
Disease	Variant of unknown significance Myoclonus with epilepsy with ragged red fibers Constipation Failure to thrive Generalized hypotonia Infantile onset Jaundice Sudden cardiac death
Variation	info
Gene
CLNDBN	Variant of unknown significance Myoclonus with epilepsy with ragged red fibers Constipation Failure to thrive Generalized hypotonia Infantile onset Jaundice Sudden cardiac death
Reversed	0
HGVS	NC_012920.1:m.15923A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032775.2, RCV000192057.1, RCV000414832.1,