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: rs28941474
rs28941474
1 6 131573314 missense variant T/C snv 4.0E-06 7.0E-06 0.810 1.000 5 1992 2018
dbSNP: rs104893948
rs104893948
1 6 131583392 missense variant G/A;C snv 2.0E-05; 8.0E-06 0.800 1.000 7 1992 2016
dbSNP: rs104893943
rs104893943
1 6 131581326 missense variant G/T snv 7.0E-06 0.800 1.000 4 1992 2013
dbSNP: rs104893944
rs104893944
1 6 131576666 stop gained C/G;T snv 4.0E-06; 6.0E-05 0.710 1.000 2 1999 2012
dbSNP: rs104893940
rs104893940
1 6 131583810 stop gained C/T snv 2.0E-05 2.8E-05 0.700 1.000 6 1992 2016
dbSNP: rs1064794165
rs1064794165
1 6 131582620 splice acceptor variant G/C snv 2.8E-05 7.0E-06 0.700 1.000 4 1995 2015
dbSNP: rs140549609
rs140549609
1 6 131581296 missense variant A/G snv 3.2E-05 2.8E-05 0.700 1.000 3 1994 2016
dbSNP: rs1554251045
rs1554251045
1 6 131582619 splice acceptor variant A/G snv 0.700 1.000 1 1995 1995
dbSNP: rs587776539
rs587776539
1 6 131573340 splice donor variant G/A snv 8.0E-06 0.700 1.000 1 1995 1995
dbSNP: rs771395982
rs771395982
1 6 131583812 frameshift variant A/- delins 0.700 1.000 1 2009 2009
dbSNP: rs104893942
rs104893942
1 6 131583808 missense variant C/G snv 0.700 0
dbSNP: rs104893947
rs104893947
1 6 131581278 stop gained G/A snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs113767658
rs113767658
1 6 131576736 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1169538148
rs1169538148
1 6 131576733 frameshift variant A/- delins 7.0E-06 0.700 0
dbSNP: rs1554249332
rs1554249332
1 6 131573284 start lost T/C snv 0.700 0
dbSNP: rs1554250040
rs1554250040
1 6 131576661 splice acceptor variant A/C snv 0.700 0
dbSNP: rs1554251158
rs1554251158
1 6 131583136 frameshift variant -/GAAA delins 0.700 0
dbSNP: rs1554251191
rs1554251191
1 6 131583379 frameshift variant T/- delins 0.700 0
dbSNP: rs1554251356
rs1554251356
1 6 131583876 frameshift variant A/- delins 0.700 0
dbSNP: rs1562356664
rs1562356664
1 6 131579167 frameshift variant C/- delins 0.700 0
dbSNP: rs1562361837
rs1562361837
1 6 131583781 frameshift variant C/- delins 0.700 0
dbSNP: rs747579073
rs747579073
1 6 131583476 stop gained G/A;T snv 8.0E-06 0.700 0
dbSNP: rs755359126
rs755359126
1 6 131583831 missense variant G/A;C snv 4.0E-05 0.700 0
dbSNP: rs776939220
rs776939220
1 6 131581284 frameshift variant -/T delins 8.0E-06 0.700 0
dbSNP: rs796051923
rs796051923
1 6 131579251 frameshift variant G/-;GG delins 0.700 0