Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs797044429
rs797044429
1 1.000 0.040 3 186741888 frameshift variant A/- delins 0.700 0
dbSNP: rs797044430
rs797044430
1 1.000 0.040 3 186741608 frameshift variant -/C delins 0.700 0
dbSNP: rs869320718
rs869320718
1 1.000 0.040 3 186740984 intron variant TTGTTGTTGTTGTTGTTTGTTTTTTGT/GGTGGTGGTGGTGGTGGTTTGTTTTTGG delins 0.700 0