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: rs10927875
rs10927875
ZBTB17
3 1.000 0.040 1 15972817 intron variant C/T snv 0.29 0.020 1.000 2 2011 2013
dbSNP: rs121917776
rs121917776
VCL
5 0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs144683137
rs144683137
VCL
2 0.925 0.120 10 74074745 missense variant A/G;T snv 1.2E-05; 3.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs938335177
rs938335177
VCL
1 1.000 0.040 10 74043094 synonymous variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1294156190
rs1294156190
TXNRD2
1 1.000 0.040 22 19880680 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs752863555
rs752863555
TXNRD2
1 1.000 0.040 22 19919597 missense variant C/G;T snv 1.2E-05; 2.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs754065483
rs754065483
TXNRD2
1 1.000 0.040 22 19918969 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs754916024
rs754916024
TXNRD2
1 1.000 0.040 22 19878123 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs757239766
rs757239766
TXNRD2
1 1.000 0.040 22 19880681 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs1284689627
rs1284689627
TTN ; TTN-AS1
1 1.000 0.040 2 178550125 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs267607158
rs267607158
TTN ; TTN-AS1
4 0.851 0.040 2 178740125 stop gained G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1298494952
rs1298494952
TTN
2 1.000 0.040 2 178789994 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs139517732
rs139517732
TTN
4 0.851 0.040 2 178802273 missense variant C/T snv 4.4E-05 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs267607155
rs267607155
TTN
3 0.925 0.040 2 178782980 missense variant A/G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs879217756
rs879217756
TTN
1 1.000 0.040 2 178784108 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs9268402
rs9268402
TSBP1 ; TSBP1-AS1
5 0.827 0.200 6 32373576 intron variant G/A snv 0.45 0.010 1.000 1 2015 2015
dbSNP: rs104894501
rs104894501
TPM1
5 0.851 0.040 15 63044030 stop gained G/A;C;T snv 4.0E-06 0.040 1.000 4 2005 2013
dbSNP: rs104894505
rs104894505
TPM1
4 0.882 0.040 15 63044072 missense variant G/A snv 0.040 1.000 4 2005 2017
dbSNP: rs1212453165
rs1212453165
TPM1
3 0.925 0.040 15 63043751 missense variant G/A snv 6.8E-06 0.040 1.000 4 2005 2017
dbSNP: rs758264780
rs758264780
TPM1
4 0.882 0.040 15 63044029 frameshift variant G/- delins 0.040 1.000 4 2005 2013
dbSNP: rs199476301
rs199476301
TPM1
6 0.851 0.040 15 63042874 missense variant G/A;T snv 4.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs199476317
rs199476317
TPM1
6 0.827 0.080 15 63062263 missense variant G/A snv 0.020 1.000 2 2010 2017
dbSNP: rs1071646
rs1071646
TPM1
1 1.000 0.040 15 63059641 splice region variant C/A snv 0.67 0.65 0.010 1.000 1 2015 2015
dbSNP: rs1346512134
rs1346512134
TPM1
1 1.000 0.040 15 63042909 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs192883939
rs192883939
TPM1
1 1.000 0.040 15 63057032 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015