rs118203888

Orientation

plus

Stabilized

plus

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

Make rs118203888(A;A)

Make rs118203888(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

12258

is a	snp
is	mentioned by
dbSNP	rs118203888
dbSNP (classic)	rs118203888
ClinGen	rs118203888
ebi	rs118203888
HLI	rs118203888
Exac	rs118203888
Gnomad	rs118203888
Varsome	rs118203888
LitVar	rs118203888
Map	rs118203888
PheGenI	rs118203888
Biobank	rs118203888
1000 genomes	rs118203888
hgdp	rs118203888
ensembl	rs118203888
geneview	rs118203888
scholar	rs118203888
google	rs118203888
pharmgkb	rs118203888
gwascentral	rs118203888
openSNP	rs118203888
23andMe	rs118203888
SNPshot	rs118203888
SNPdbe	rs118203888
MSV3d	rs118203888
GWAS Ctlg	rs118203888

Max Magnitude

0

ClinVar
Risk	rs118203888(A;A)
Alt	rs118203888(A;A)
Reference	Rs118203888(C;C)
Significance	Pathogenic
Disease	Cerebellar ataxia Retinitis pigmentosa-deafness syndrome
Variation	info
Gene
CLNDBN	Cerebellar ataxia, cataract, and diabetes mellitus Retinitis pigmentosa-deafness syndrome
Reversed	0
HGVS	NC_012920.1:m.12258C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010170.2, RCV000010171.4,