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: rs1555525654
rs1555525654
TMEM107 ; SNORD118 ; LOC105371520
1 1.000 0.160 17 8173566 3 prime UTR variant -/GGATTATCCCACCTGACGATACAGACAAA delins 0.700 0
dbSNP: rs201787275
rs201787275
TMEM107 ; SNORD118 ; LOC105371520
1 1.000 0.160 17 8173444 3 prime UTR variant G/A;C;T snv 2.0E-03; 4.3E-06; 8.6E-06; 4.3E-06 0.700 0
dbSNP: rs755495846
rs755495846
TMEM107 ; SNORD118 ; LOC105371520
1 1.000 0.160 17 8173531 3 prime UTR variant T/A;C;G snv 1.7E-05; 1.7E-05; 1.3E-05 0.700 0
dbSNP: rs886039783
rs886039783
TMEM107 ; SNORD118 ; LOC105371520
1 1.000 0.160 17 8173637 3 prime UTR variant AAGCTA/- del 0.700 0
dbSNP: rs886039784
rs886039784
TMEM107 ; SNORD118 ; LOC105371520
1 1.000 0.160 17 8173532 3 prime UTR variant C/T snv 4.2E-05 0.700 0
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs754332870
rs754332870
TP53
9 0.790 0.240 17 7676240 missense variant C/G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs765660823
rs765660823
DDR2
4 0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04 0.010 1.000 1 2018 2018