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: rs1452075
rs1452075
CADPS
4 1.000 0.040 3 62495388 intron variant C/T snv 0.73 0.700 1.000 1 2019 2019
dbSNP: rs2388334
rs2388334 		5 0.882 0.040 6 98143746 intron variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs13294439
rs13294439 		2 1.000 0.040 9 23358877 intron variant A/C snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs11787216
rs11787216 		2 1.000 0.040 8 141605122 intron variant C/T snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs2898883
rs2898883
PHB
2 1.000 0.040 17 49405591 intron variant G/A snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs373783340
rs373783340
POGZ
1 1.000 0.040 1 151406243 missense variant G/A snv 4.0E-05 1.2E-04 0.700 0
dbSNP: rs769581210
rs769581210
POGZ
1 1.000 0.040 1 151405376 missense variant T/C snv 7.2E-05 3.5E-05 0.700 0
dbSNP: rs888864913
rs888864913
POGZ
1 1.000 0.040 1 151424097 missense variant C/T snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs574158925
rs574158925
POGZ
1 1.000 0.040 1 151427829 missense variant T/C snv 5.6E-05 2.8E-05 0.700 0
dbSNP: rs753214391
rs753214391
POGZ
1 1.000 0.040 1 151406444 missense variant C/T snv 1.0E-05 2.1E-05 0.700 0
dbSNP: rs548226228
rs548226228
POGZ
1 1.000 0.040 1 151406914 missense variant G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs754532606
rs754532606
POGZ
1 1.000 0.040 1 151423526 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs760059077
rs760059077
POGZ
1 1.000 0.040 1 151405919 missense variant C/T snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs375712202
rs375712202
HEPACAM ; LOC107984406
1 1.000 0.040 11 124923339 splice donor variant C/T snv 9.6E-05 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs866632178
rs866632178
POGZ
1 1.000 0.040 1 151441000 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs370498156
rs370498156
POGZ
1 1.000 0.040 1 151404903 missense variant T/C;G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs561369202
rs561369202
POGZ
1 1.000 0.040 1 151428152 missense variant T/C snv 6.4E-05 1.4E-05 0.700 0
dbSNP: rs1418634444
rs1418634444
POGZ
1 1.000 0.040 1 151408777 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs375045125
rs375045125
POGZ
1 1.000 0.040 1 151429672 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs796053483
rs796053483
TSC2
1 1.000 0.040 16 2060775 missense variant C/G snv 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs760211123
rs760211123
POGZ
1 1.000 0.040 1 151405662 missense variant T/C snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs756691187
rs756691187
POGZ
1 1.000 0.040 1 151404993 missense variant C/G snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1484207450
rs1484207450
POGZ
1 1.000 0.040 1 151405155 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs202098093
rs202098093
POGZ
1 1.000 0.040 1 151405476 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs778792467
rs778792467
POGZ
1 1.000 0.040 1 151405692 missense variant G/C snv 4.4E-05 7.0E-06 0.700 0