Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17362588
rs17362588
2 178856319 missense variant G/A snv 6.0E-02 6.1E-02
CUI: C0018810
Disease: heart rate
heart rate
0.800 1.000 1 2013 2013
dbSNP: rs10497529
rs10497529
2 178975161 missense variant G/A snv 3.0E-02 2.6E-02
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE
0.700 1.000 2 2016 2018
dbSNP: rs11693319
rs11693319
2 178873542 3 prime UTR variant C/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2013 2013
dbSNP: rs11693319
rs11693319
2 178873542 3 prime UTR variant C/G;T snv
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement
0.700 1.000 1 2013 2013
dbSNP: rs151041685
rs151041685
2 178860510 intron variant G/T snv 6.3E-02
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE
0.700 1.000 1 2016 2016
dbSNP: rs17362588
rs17362588
2 178856319 missense variant G/A snv 6.0E-02 6.1E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2019 2019
dbSNP: rs7561149
rs7561149
2 178825129 intron variant T/C snv 0.33
QT interval feature (observable entity)
0.700 1.000 1 2014 2014
dbSNP: rs7591091
rs7591091
2 178889467 intron variant T/C snv 0.60
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2017 2017
dbSNP: rs79146658
rs79146658
2 178921341 intron variant T/C snv 5.9E-02
CUI: C0018810
Disease: heart rate
heart rate
0.700 1.000 1 2018 2018
dbSNP: rs79146658
rs79146658
2 178921341 intron variant T/C snv 5.9E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2017 2017