rs199474818

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	6	Palmoplantar keratoderma with deafness

Make rs199474818(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

7445

Gene

COX1

is a	snp
is	mentioned by
dbSNP	rs199474818
dbSNP (classic)	rs199474818
ClinGen	rs199474818
ebi	rs199474818
HLI	rs199474818
Exac	rs199474818
Gnomad	rs199474818
Varsome	rs199474818
LitVar	rs199474818
Map	rs199474818
PheGenI	rs199474818
Biobank	rs199474818
1000 genomes	rs199474818
hgdp	rs199474818
ensembl	rs199474818
geneview	rs199474818
scholar	rs199474818
google	rs199474818
pharmgkb	rs199474818
gwascentral	rs199474818
openSNP	rs199474818
23andMe	rs199474818
SNPshot	rs199474818
SNPdbe	rs199474818
MSV3d	rs199474818
GWAS Ctlg	rs199474818

Max Magnitude

6

ClinVar
Risk	rs199474818(C;C) rs199474818(G;G)
Alt	rs199474818(C;C) rs199474818(G;G)
Reference	Rs199474818(A;A)
Significance	Pathogenic
Disease	Deafness Keratoderma palmoplantar deafness
Variation	info
Gene	COX1
CLNDBN	Deafness, nonsyndromic sensorineural, mitochondrial Keratoderma palmoplantar deafness
Reversed	0
HGVS	NC_012920.1:m.7445A>C; NC_012920.1:m.7445A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010181.2, RCV000010176.2, RCV000010177.2,