Gene: SURF1 ×
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: rs121918658
rs121918658
SURF1
2 0.925 0.120 9 133352074 missense variant A/C snv 0.700 1.000 7 1998 2012
dbSNP: rs28933402
rs28933402
SURF1
2 0.925 0.120 9 133353893 missense variant C/T snv 0.700 1.000 7 1998 2012
dbSNP: rs398122806
rs398122806
SURF1
2 0.925 0.120 9 133352518 missense variant A/G snv 0.700 1.000 7 1998 2012
dbSNP: rs782024654
rs782024654
SURF1 ; SURF2
1 1.000 0.120 9 133354713 missense variant A/G snv 7.0E-06 0.700 1.000 7 1998 2012
dbSNP: rs782033035
rs782033035
SURF1
1 1.000 0.120 9 133353894 missense variant C/T snv 1.2E-05 0.700 1.000 7 1998 2012
dbSNP: rs782623477
rs782623477
SURF1
1 1.000 0.120 9 133352509 stop gained G/A snv 1.1E-04 7.0E-05 0.700 1.000 6 1999 2014
dbSNP: rs782190413
rs782190413
SURF1
2 0.925 0.120 9 133352708 missense variant G/A snv 1.2E-05 3.5E-05 0.700 1.000 5 2002 2014
dbSNP: rs782316919
rs782316919
SURF1
9 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 1.000 5 1998 2013
dbSNP: rs782349178
rs782349178
SURF1
1 1.000 0.120 9 133352135 frameshift variant TG/- delins 1.4E-05 2.8E-05 0.700 1.000 5 2006 2013
dbSNP: rs863224228
rs863224228
SURF1 ; SURF2
3 0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 0.700 1.000 5 1998 2015
dbSNP: rs121918657
rs121918657
SURF1
2 0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05 0.700 1.000 3 1998 2013
dbSNP: rs782007828
rs782007828
SURF1
1 1.000 0.120 9 133352139 splice acceptor variant CTCT/-;CT delins 4.5E-06; 4.5E-06 7.0E-06 0.700 1.000 3 2012 2014
dbSNP: rs782490558
rs782490558
SURF1
3 0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05 0.700 1.000 2 2013 2015
dbSNP: rs147816470
rs147816470
SURF1
1 1.000 0.120 9 133352696 stop gained G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
4 0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs863224926
rs863224926
SURF1 ; SURF2
1 1.000 0.120 9 133356268 splice donor variant C/G snv 0.700 1.000 1 2012 2012
dbSNP: rs1319811735
rs1319811735
SURF1
1 1.000 0.120 9 133352493 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1391748504
rs1391748504
SURF1
1 1.000 0.120 9 133352143 splice acceptor variant C/G snv 7.0E-06 0.700 0
dbSNP: rs1410388157
rs1410388157
SURF1 ; SURF2
1 1.000 0.120 9 133356415 frameshift variant -/GCAGCCC delins 0.700 0
dbSNP: rs1554768246
rs1554768246
SURF1
1 1.000 0.120 9 133352134 frameshift variant -/T delins 0.700 0
dbSNP: rs1554768333
rs1554768333
SURF1
1 1.000 0.120 9 133352565 frameshift variant CT/- delins 0.700 0
dbSNP: rs1564349087
rs1564349087
SURF1
2 1.000 0.120 9 133353760 stop gained G/T snv 0.700 0
dbSNP: rs782609482
rs782609482
SURF1
4 1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 0.700 0
dbSNP: rs72619327
rs72619327
SURF1
1 1.000 0.120 9 133352593 missense variant C/A;G snv 4.0E-06; 1.4E-02 0.010 1.000 1 2009 2009