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: rs9895661
rs9895661
BCAS3
10 0.882 0.200 17 61379228 non coding transcript exon variant C/T snv 0.69 0.700 1.000 5 2010 2018
dbSNP: rs2279463
rs2279463
SLC22A2
4 1.000 0.080 6 160247357 intron variant A/G;T snv 0.700 1.000 4 2010 2019
dbSNP: rs2453533
rs2453533 		4 1.000 0.080 15 45349027 intergenic variant C/A snv 0.56 0.700 1.000 3 2010 2017
dbSNP: rs3812036
rs3812036
SLC34A1
5 0.925 0.120 5 177386403 intron variant C/T snv 0.23 0.20 0.700 1.000 3 2017 2018
dbSNP: rs3925584
rs3925584
LOC101928338
7 1.000 0.080 11 30738788 intergenic variant T/C snv 0.35 0.700 1.000 3 2016 2019
dbSNP: rs77924615
rs77924615
PDILT
7 1.000 0.080 16 20381010 intron variant G/A snv 0.16 0.700 1.000 3 2017 2019
dbSNP: rs881858
rs881858
LOC105375069 ; LOC107986598
7 0.882 0.200 6 43838872 intron variant G/A;C snv 0.700 1.000 3 2010 2018
dbSNP: rs10109414
rs10109414 		5 1.000 0.080 8 23893638 regulatory region variant C/T snv 0.37 0.700 1.000 2 2010 2016
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 2 2017 2019
dbSNP: rs10774021
rs10774021
SLC6A13
4 1.000 0.080 12 240132 intron variant C/T snv 0.57 0.700 1.000 2 2010 2016
dbSNP: rs10794720
rs10794720
WDR37
4 1.000 0.080 10 1110225 intron variant T/C snv 0.89 0.700 1.000 2 2010 2016
dbSNP: rs11959928
rs11959928
C9 ; DAB2
4 1.000 0.080 5 39397030 intron variant T/A snv 0.39 0.700 1.000 2 2010 2016
dbSNP: rs12460876
rs12460876
SLC7A9
4 1.000 0.080 19 32865985 intron variant T/C snv 0.36 0.700 1.000 2 2010 2016
dbSNP: rs1260326
rs1260326
GCKR
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 2 2010 2016
dbSNP: rs12917707
rs12917707
UMOD
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.700 1.000 2 2010 2016
dbSNP: rs13146355
rs13146355
SHROOM3
6 1.000 0.040 4 76490987 intron variant G/A snv 0.33 0.700 1.000 2 2017 2019
dbSNP: rs13538
rs13538
NAT8 ; ALMS1P1
5 1.000 0.080 2 73641201 missense variant A/G snv 0.21 0.31 0.700 1.000 2 2010 2016
dbSNP: rs1394125
rs1394125
UBE2Q2
7 0.882 0.200 15 75866642 intron variant G/A;T snv 0.700 1.000 2 2010 2016
dbSNP: rs17319721
rs17319721
SHROOM3
5 0.925 0.080 4 76447694 intron variant G/A snv 0.34 0.700 1.000 2 2010 2016
dbSNP: rs2467853
rs2467853
SPATA5L1
4 1.000 0.080 15 45406595 intron variant T/A;G snv 0.700 1.000 2 2016 2019
dbSNP: rs267734
rs267734 		7 0.925 0.120 1 150979001 upstream gene variant T/C snv 0.14 0.700 1.000 2 2010 2016
dbSNP: rs347685
rs347685
TFDP2
4 1.000 0.080 3 142088295 intron variant C/A snv 0.74 0.700 1.000 2 2010 2016
dbSNP: rs3850625
rs3850625
CACNA1S
3 1 201047168 missense variant G/A snv 0.12 8.9E-02 0.700 1.000 2 2016 2017
dbSNP: rs4014195
rs4014195 		7 0.882 0.200 11 65739351 intergenic variant C/G snv 0.31 0.700 1.000 2 2010 2016
dbSNP: rs4744712
rs4744712
PIP5K1B
4 1.000 0.080 9 68819791 intron variant A/C;T snv 0.700 1.000 2 2010 2016