rs199476143

Orientation

plus

Stabilized

plus

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

Make rs199476143(A;A)

Make rs199476143(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

1606

is a	snp
is	mentioned by
dbSNP	rs199476143
dbSNP (classic)	rs199476143
ClinGen	rs199476143
ebi	rs199476143
HLI	rs199476143
Exac	rs199476143
Gnomad	rs199476143
Varsome	rs199476143
LitVar	rs199476143
Map	rs199476143
PheGenI	rs199476143
Biobank	rs199476143
1000 genomes	rs199476143
hgdp	rs199476143
ensembl	rs199476143
geneview	rs199476143
scholar	rs199476143
google	rs199476143
pharmgkb	rs199476143
gwascentral	rs199476143
openSNP	rs199476143
23andMe	rs199476143
SNPshot	rs199476143
SNPdbe	rs199476143
MSV3d	rs199476143
GWAS Ctlg	rs199476143

Max Magnitude

0

ClinVar
Risk	rs199476143(A;A)
Alt	rs199476143(A;A)
Reference	Rs199476143(G;G)
Significance	Pathogenic
Disease	Ataxia
Variation	info
Gene
CLNDBN	Ataxia, progressive seizures, mental deterioration, and hearing loss
Reversed	0
HGVS	NC_012920.1:m.1606G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010156.2,