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: rs13001130
rs13001130
AFF3
1 2 100052237 intron variant G/A snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs78633727
rs78633727
AFF3
1 2 100052995 intron variant T/C snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs6750720
rs6750720
AFF3
1 2 100054283 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6714788
rs6714788
AFF3
1 2 100069711 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs72774059
rs72774059
GRIN2A
1 16 10007295 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11596211
rs11596211
CPN1
1 10 100080362 intron variant T/A snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs4851250
rs4851250
AFF3
1 2 100112831 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2309752
rs2309752
AFF3
1 2 100145707 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4851254
rs4851254
AFF3
1 2 100146475 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1408579
rs1408579
ERLIN1
3 1.000 0.040 10 100152437 intron variant C/T snv 0.32 0.700 1.000 3 2018 2019
dbSNP: rs11123816
rs11123816
AFF3
1 2 100167191 intron variant G/A snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs7583067
rs7583067
AFF3
1 2 100180388 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12712073
rs12712073
AFF3
1 2 100188666 intron variant T/C snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs6712515
rs6712515
AFF3
3 0.925 0.160 2 100190052 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs837705
rs837705
GRIN2A
1 16 10019519 intron variant C/A snv 0.69 0.700 1.000 1 2018 2018
dbSNP: rs13018640
rs13018640 		1 2 100205083 upstream gene variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs9653442
rs9653442
LINC01104
2 1.000 0.120 2 100208905 intron variant C/T snv 0.46 0.700 1.000 1 2019 2019
dbSNP: rs10865035
rs10865035
LINC01104
2 1.000 0.080 2 100219272 intron variant A/G snv 0.42 0.700 1.000 1 2018 2018
dbSNP: rs13010010
rs13010010
LINC01104
1 2 100236272 intron variant C/T snv 0.27 0.700 1.000 4 2017 2019
dbSNP: rs2309812
rs2309812 		1 2 100253240 downstream gene variant C/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs4331524
rs4331524 		1 2 100259649 intergenic variant C/T snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs4438499
rs4438499 		1 2 100260327 intergenic variant G/A snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs2067783
rs2067783 		1 2 100260908 regulatory region variant T/C snv 0.39 0.700 1.000 1 2018 2018
dbSNP: rs61871342
rs61871342
BLOC1S2
2 1.000 0.040 10 100278884 intron variant G/A snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs7582180
rs7582180
LONRF2
1 2 100296001 intron variant A/G snv 0.72 0.700 1.000 1 2019 2019