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rs199474818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 Palmoplantar keratoderma with deafness
Make rs199474818(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeMT
Position7445
GeneCOX1
is asnp
is mentioned by
dbSNPrs199474818
dbSNP (old)rs199474818
ClinGenrs199474818
ebirs199474818
HLIrs199474818
Exacrs199474818
Gnomadrs199474818
Varsomers199474818
Maprs199474818
PheGenIrs199474818
Biobankrs199474818
1000 genomesrs199474818
hgdprs199474818
ensemblrs199474818
gopubmedrs199474818
geneviewrs199474818
scholarrs199474818
googlers199474818
pharmgkbrs199474818
gwascentralrs199474818
openSNPrs199474818
23andMers199474818
23andMe allrs199474818
SNP Nexus

SNPshotrs199474818
SNPdbers199474818
MSV3drs199474818
GWAS Ctlgrs199474818
Max Magnitude6
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,