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: rs146318841
rs146318841
AHI1
4 6 135328483 intron variant TGCCATAAACCATAGCCATAG/-;TGCCATAAACCATAGCCATAGTGCCATAAACCATAGCCATAG delins 0.700 1.000 1 2016 2016
dbSNP: rs147694761
rs147694761
NPC1
5 18 23571654 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs1570884
rs1570884
RCBTB1
4 13 49547375 intron variant A/G snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs16978075
rs16978075
LINC01478 ; LINC01601
5 18 44533186 intron variant T/C snv 8.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs174555
rs174555
FADS1 ; FADS2
4 11 61812288 intron variant T/C snv 0.26 0.700 1.000 1 2016 2016
dbSNP: rs17592479
rs17592479
COQ8A
4 1 226986191 intron variant T/A snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022
C11orf65
5 11 108378047 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1969949
rs1969949
DOCK8
3 9 305428 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1982094
rs1982094
CCDC26
5 8 129612570 intron variant C/T snv 4.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs200476039
rs200476039
EML6
3 2 54760823 intron variant TTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT delins 5.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs2038700
rs2038700
STXBP6
7 14 24992783 intron variant T/C snv 0.53 0.700 1.000 1 2016 2016
dbSNP: rs212409
rs212409
LOC105378083 ; LOC107986664
4 6 159049026 intron variant G/A snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs2158799
rs2158799
JAZF1-AS1
5 7 28237488 intron variant C/G;T snv 0.70 0.700 1.000 1 2016 2016
dbSNP: rs2250635
rs2250635
EHD4
4 15 41969267 intron variant T/C snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs238914
rs238914
ZBTB16
5 11 114113387 intron variant C/A snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs2436845
rs2436845
AZIN1
4 8 102840179 intron variant G/A snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs2524079
rs2524079
HLA-B
6 6 31274397 intron variant G/A snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs2802372
rs2802372
ZMIZ1
1 10 79287818 intron variant A/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs2846630
rs2846630
ZBTB16
5 11 114086475 intron variant G/A snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs2860773
rs2860773
LOC105374780
1 2 65438507 intron variant G/T snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs2954031
rs2954031 		9 8 125479491 intron variant G/T snv 0.42 0.700 1.000 1 2016 2016
dbSNP: rs2979489
rs2979489
RBPMS
6 8 30423317 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs2998286
rs2998286
LINC02652
5 10 28491444 intron variant T/C snv 0.73 0.700 1.000 1 2016 2016
dbSNP: rs34061361
rs34061361
FLT3
5 13 28044450 intron variant AAA/-;A;AA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs34208856
rs34208856
HBS1L
6 6 135099930 intron variant TT/-;T;TTT;TTTTTTTTT delins 0.700 1.000 1 2016 2016