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: rs10433415
rs10433415 		1 3 133566686 intergenic variant G/T snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs1049296
rs1049296
TF
4 0.882 0.120 3 133775510 missense variant C/T snv 0.16 0.14 0.800 1.000 1 2011 2011
dbSNP: rs10935068
rs10935068 		1 3 133543963 upstream gene variant T/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs10935070
rs10935070
TOPBP1
1 3 133623144 missense variant T/C;G snv 0.29; 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs10935073
rs10935073
TF ; INHCAP
1 3 133720340 intron variant T/C snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs1107413
rs1107413
SRPRB ; LOC105374116
1 3 133805873 missense variant G/C snv 0.22 0.20 0.700 1.000 1 2011 2011
dbSNP: rs11208264
rs11208264
PGM1
1 1 63659401 intron variant T/C snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs11576729
rs11576729
PGM1
1 1 63648758 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs11921187
rs11921187
RAB6B
1 3 133832798 intron variant T/C snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs11921527
rs11921527
TF ; INHCAP
1 3 133722323 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs12027168
rs12027168
PGM1
1 1 63654942 intron variant T/C snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs12490148
rs12490148
SRPRB ; LOC105374116
2 3 133805129 non coding transcript exon variant C/T snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs12637730
rs12637730
RAB6B ; SRPRB
3 3 133827453 3 prime UTR variant C/T snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs12639304
rs12639304
TF ; INHCAP
1 3 133722750 intron variant A/T snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs1358024
rs1358024
TF
1 3 133765344 intron variant C/T snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs1444600
rs1444600 		1 3 133569662 upstream gene variant C/T snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs1464937
rs1464937
SRPRB
1 3 133817811 intron variant G/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1506397
rs1506397
LOC105378771
1 1 63679612 intergenic variant C/G snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs1525889
rs1525889
TF
1 3 133771189 intron variant A/C snv 0.29 0.700 1.000 1 2011 2011
dbSNP: rs1525892
rs1525892
TF
2 1.000 0.040 3 133765868 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1534165
rs1534165
SRPRB
1 3 133818073 intron variant T/C snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs1534166
rs1534166
SRPRB
2 3 133818223 intron variant A/G snv 0.28 0.800 1.000 1 2011 2011
dbSNP: rs17310413
rs17310413
SRPRB
1 3 133823117 intron variant T/G snv 0.16 0.700 1.000 1 2011 2011
dbSNP: rs17310798
rs17310798
RAB6B
1 3 133844095 intron variant T/C snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs17376019
rs17376019
SRPRB
1 3 133822039 intron variant C/T snv 0.11 0.700 1.000 1 2011 2011