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: rs1170466474
rs1170466474
3 1.000 0.040 5 70925180 missense variant G/A snv 8.2E-05 0.700 0
dbSNP: rs1560755661
rs1560755661
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs869320701
rs869320701
8 0.925 0.080 7 157367408 missense variant T/A;G snv 0.700 0
dbSNP: rs104894824
rs104894824
4 0.882 0.160 X 71223871 missense variant C/T snv 0.010 1.000 1 2001 2001