Source: CURATED ×
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: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs10748781
rs10748781 		11 0.763 0.160 10 99523573 upstream gene variant C/A;G snv 0.700 1.000 2 2016 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
73 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 2 2012 2019
dbSNP: rs965513
rs965513
PTCSC2
4 0.742 0.200 9 97793827 intron variant A/G;T snv 0.700 1.000 2 2011 2012
dbSNP: rs10223666
rs10223666
LOC105375069 ; LOC107986598
3 1.000 0.040 6 43837765 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs10277273
rs10277273
FOXK1
1 1.000 0.040 7 4745498 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10424978
rs10424978 		4 0.851 0.080 19 4837545 upstream gene variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1047578
rs1047578
NAA25
1 1.000 0.040 12 112027325 3 prime UTR variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1057516033
rs1057516033
KAT6B
9 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1064191
rs1064191 		1 1.000 0.040 6 31107598 downstream gene variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs10821973
rs10821973
LINC02621
1 1.000 0.040 10 62292578 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs10917477
rs10917477
MICOS10
2 1.000 0.040 1 19534612 intron variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10956412
rs10956412
PVT1 ; MIR1208
1 1.000 0.040 8 128150251 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10986320
rs10986320
NEK6
1 1.000 0.040 9 124331623 intron variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11066188
rs11066188
HECTD4
7 0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 0.700 1.000 1 2012 2012
dbSNP: rs11231757
rs11231757
CCDC88B ; LOC102723878
1 1.000 0.040 11 64338845 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11258303
rs11258303 		1 1.000 0.040 10 6363572 regulatory region variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs112799045
rs112799045 		1 1.000 0.040 7 2899718 intergenic variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12271161
rs12271161 		1 1.000 0.040 11 117109195 downstream gene variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12325861
rs12325861
RAB5C
1 1.000 0.040 17 42137394 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs12485900
rs12485900
MB21D2
1 1.000 0.040 3 192905990 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12697352
rs12697352
LOC105374724
2 0.925 0.120 5 35837132 regulatory region variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs13281186
rs13281186
CCN4
1 1.000 0.040 8 133197970 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1382879
rs1382879
PDE8B
3 1.000 0.040 5 77226043 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1443438
rs1443438
PTCSC2
8 0.827 0.080 9 97787746 intron variant T/A;C snv 0.700 1.000 1 2012 2012