Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs875989846
rs875989846
0.925 0.080 8 30612400 missense variant C/G snv
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
0.800 0
dbSNP: rs875989847
rs875989847
0.925 0.080 8 30607141 missense variant C/A snv
TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE
0.800 0