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: rs387907246
rs387907246
KCTD7
2 0.925 0.040 7 66638912 missense variant C/T snv 2.0E-05 7.0E-06 0.800 1.000 7 1990 2016
dbSNP: rs387907260
rs387907260
KCTD7
22 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.800 1.000 5 2007 2012
dbSNP: rs387907261
rs387907261
KCTD7
2 0.925 0.040 7 66639180 missense variant A/G;T snv 0.800 1.000 5 2007 2012
dbSNP: rs387907262
rs387907262
KCTD7
1 1.000 0.040 7 66638281 missense variant G/T snv 0.800 1.000 5 2007 2012
dbSNP: rs387907263
rs387907263
KCTD7
1 1.000 0.040 7 66638260 missense variant C/A snv 0.800 1.000 5 2007 2012
dbSNP: rs1554397834
rs1554397834
KCTD7
1 1.000 0.040 7 66633445 splice donor variant G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs267607199
rs267607199
KCTD7
1 1.000 0.040 7 66633425 stop gained C/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs368001837
rs368001837
KCTD7
6 0.851 0.080 7 66638895 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs727502785
rs727502785
KCTD7
1 1.000 0.040 7 66638954 frameshift variant C/- delins 0.700 0
dbSNP: rs774026720
rs774026720
KCTD7
1 1.000 0.040 7 66638273 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
22 0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 0.700 0