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: rs117225135
rs117225135
DHTKD1
1 1.000 10 12112930 missense variant G/A snv 1.7E-03 1.9E-03 0.800 1.000 3 2012 2016
dbSNP: rs760386662
rs760386662
DHTKD1
1 1.000 10 12106245 splice acceptor variant G/A snv 2.8E-05 2.1E-05 0.700 1.000 2 2012 2015
dbSNP: rs138884194
rs138884194
DHTKD1
1 1.000 10 12094222 stop gained G/A;T snv 8.0E-06; 6.0E-05 0.700 1.000 1 2015 2015
dbSNP: rs745432268
rs745432268
DHTKD1
1 1.000 10 12107995 stop gained C/T snv 1.2E-05 4.9E-05 0.700 1.000 1 2015 2015
dbSNP: rs1554791360
rs1554791360
DHTKD1
1 1.000 10 12084695 frameshift variant -/A delins 0.700 0
dbSNP: rs1564391327
rs1564391327
DHTKD1
1 1.000 10 12089016 frameshift variant G/- del 0.700 0