rs118192101

Orientation

plus

Stabilized

plus

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

Make rs118192101(A;A)

Make rs118192101(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

8313

is a	snp
is	mentioned by
dbSNP	rs118192101
dbSNP (classic)	rs118192101
ClinGen	rs118192101
ebi	rs118192101
HLI	rs118192101
Exac	rs118192101
Gnomad	rs118192101
Varsome	rs118192101
LitVar	rs118192101
Map	rs118192101
PheGenI	rs118192101
Biobank	rs118192101
1000 genomes	rs118192101
hgdp	rs118192101
ensembl	rs118192101
geneview	rs118192101
scholar	rs118192101
google	rs118192101
pharmgkb	rs118192101
gwascentral	rs118192101
openSNP	rs118192101
23andMe	rs118192101
SNPshot	rs118192101
SNPdbe	rs118192101
MSV3d	rs118192101
GWAS Ctlg	rs118192101

Max Magnitude

0

ClinVar
Risk	rs118192101(A;A)
Alt	rs118192101(A;A)
Reference	Rs118192101(G;G)
Significance	Pathogenic
Disease	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Variation	info
Gene
CLNDBN	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Reversed	0
HGVS	NC_012920.1:m.8313G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010200.5,