Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
CUI: C3151897
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
8 0.882 0.320 MT 7445 stop lost A/C;G;T snv 0.700 1.000 4 1994 2008
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
53 0.882 0.320 MT 7445 stop lost A/C;G;T snv 0.700 1.000 1 1994 1994
Palmoplantar Keratoderma with Deafness
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
27 0.882 0.320 MT 7445 stop lost A/C;G;T snv 0.700 0