rs199474819

Orientation

plus

Stabilized

plus

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

Make rs199474819(-;C)

Make rs199474819(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

7472

is a	snp
is	mentioned by
dbSNP	rs199474819
dbSNP (classic)	rs199474819
ClinGen	rs199474819
ebi	rs199474819
HLI	rs199474819
Exac	rs199474819
Gnomad	rs199474819
Varsome	rs199474819
LitVar	rs199474819
Map	rs199474819
PheGenI	rs199474819
Biobank	rs199474819
1000 genomes	rs199474819
hgdp	rs199474819
ensembl	rs199474819
geneview	rs199474819
scholar	rs199474819
google	rs199474819
pharmgkb	rs199474819
gwascentral	rs199474819
openSNP	rs199474819
23andMe	rs199474819
SNPshot	rs199474819
SNPdbe	rs199474819
MSV3d	rs199474819
GWAS Ctlg	rs199474819

Max Magnitude

0

ClinVar
Risk	rs199474819(C;C)
Alt	rs199474819(C;C)
Reference	Rs199474819(A;A)
Significance	Pathogenic
Disease	Mitochondrial cytochrome c oxidase deficiency DEAFNESS Deafness
Variation	info
Gene
CLNDBN	Mitochondrial cytochrome c oxidase deficiency DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES Deafness, nonsyndromic sensorineural, mitochondrial
Reversed	0
HGVS	NC_012920.1:m.7472_7473insC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010178.1, RCV000022905.1, RCV000022906.3,