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: rs148890852
rs148890852
ZNHIT3 ; LOC105371749
1 1.000 0.080 17 36486940 missense variant C/T snv 4.2E-04 4.3E-04 0.820 1.000 2 2017 2020
dbSNP: rs387906799
rs387906799
KIF1A
19 0.742 0.200 2 240788118 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs672601368
rs672601368
KIF1A
10 0.827 0.160 2 240785062 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs797045164
rs797045164
KIF1A
8 0.851 0.120 2 240785063 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs770002937
rs770002937
ZNHIT3 ; LOC105371749
1 1.000 0.080 17 36486740 missense variant G/A;T snv 2.8E-05 0.010 1.000 1 2020 2020
dbSNP: rs879255649
rs879255649
CCDC88A
1 1.000 0.080 2 55334506 frameshift variant A/- delins 0.010 1.000 1 2016 2016