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: rs11071720
rs11071720
TPM1 ; TPM1-AS
3 15 63049797 intron variant T/C;G snv 0.800 1.000 3 2009 2016
dbSNP: rs2138852
rs2138852 		1 17 29376331 intron variant C/G;T snv 0.800 1.000 3 2009 2012
dbSNP: rs201800621
rs201800621
CD226
1 18 69849609 intron variant G/A;C snv 0.700 1.000 2 2009 2012
dbSNP: rs10072221
rs10072221
IQGAP2
1 5 76424719 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10274553
rs10274553
CTB-30L5.1
1 7 106716200 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10605167
rs10605167
ENDOD1
1 11 95095304 intron variant TCC/-;TCCTCC delins 0.700 1.000 1 2016 2016
dbSNP: rs10900828
rs10900828 		1 5 134500603 upstream gene variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs10954750
rs10954750
STYXL1
1 7 76035603 intron variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11082304
rs11082304
CABLES1
6 18 23141009 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs111896493
rs111896493
ADGRE5
1 19 14381256 5 prime UTR variant -/AGTG delins 0.700 1.000 1 2016 2016
dbSNP: rs112346425
rs112346425
AP2B1
1 17 35680792 intron variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11235688
rs11235688
P2RY2
1 11 73236889 upstream gene variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs112505971
rs112505971
ANKRD26
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11315757
rs11315757
PPP4R1-AS1
1 18 9617722 intron variant AA/-;A;AAA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs11459029
rs11459029
ARHGEF3
1 3 56740187 intron variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs11471957
rs11471957
TUBB1
2 20 59023277 intron variant -/AA ins 0.700 1.000 1 2016 2016
dbSNP: rs11477536
rs11477536
DNTTIP1
1 20 45796388 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs11593377
rs11593377
PROSER2-AS1 ; PROSER2
1 10 11853098 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11601507
rs11601507
TRIM5
3 1.000 0.040 11 5679844 missense variant C/A;T snv 9.3E-02; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs116383353
rs116383353
TBC1D14
1 4 6923070 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11731274
rs11731274 		2 4 6889728 intergenic variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11920280
rs11920280
KALRN
1 3 124618265 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12096438
rs12096438
LDLRAP1
2 1 25562931 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12155039
rs12155039
H2AZ2
2 7 44833526 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12897108
rs12897108
COCH ; STRN3
1 14 30893304 intron variant G/A;T snv 0.700 1.000 1 2016 2016