Source: ALL
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: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs1554785242
rs1554785242
ADAMTS13
8 0.882 0.160 9 133426240 missense variant G/T snv 0.700 0
dbSNP: rs1554791280
rs1554791280
ADAMTS13
8 0.882 0.160 9 133442718 missense variant T/C snv 0.700 0
dbSNP: rs1555206402
rs1555206402
HMBS
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs768849283
rs768849283
PRF1
7 0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05 0.700 0