rs1237955948, TMPRSS3

N. diseases: 2
Source: CLINVAR ×
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, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
CUI: C1832827
Disease: DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
11 1.000 0.120 21 42382235 splice acceptor variant C/A;T snv 8.0E-06 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
257 1.000 0.120 21 42382235 splice acceptor variant C/A;T snv 8.0E-06 0.700 0