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: rs28928898
rs28928898
3 0.882 0.080 17 41624247 missense variant A/G;T snv 0.820 1.000 18 1995 2013
dbSNP: rs59151893
rs59151893
3 0.882 0.080 17 41624235 missense variant T/C snv 0.810 1.000 19 1995 2013
dbSNP: rs28928896
rs28928896
2 0.925 0.080 17 41624236 missense variant T/C;G snv 0.800 1.000 18 1995 2013
dbSNP: rs28928897
rs28928897
2 0.925 0.080 17 41624229 missense variant C/G;T snv 0.800 1.000 18 1995 2013
dbSNP: rs28928899
rs28928899
1 1.000 0.080 17 41624226 missense variant A/G;T snv 0.800 1.000 18 1995 2013
dbSNP: rs28933088
rs28933088
2 0.925 0.080 17 41624218 missense variant A/C snv 0.800 1.000 18 1995 2013
dbSNP: rs28933089
rs28933089
1 1.000 0.080 17 41624214 missense variant A/G snv 0.800 1.000 18 1995 2013
dbSNP: rs58730926
rs58730926
2 0.925 0.080 17 41624230 missense variant G/A snv 1.4E-05 0.800 1.000 18 1995 2013
dbSNP: rs267607412
rs267607412
2 0.925 0.080 17 41624185 missense variant T/C snv 1.2E-05 1.4E-05 0.700 1.000 18 1995 2013
dbSNP: rs121912478
rs121912478
1 1.000 0.080 17 41624218 inframe deletion AGG/- delins 0.700 0
dbSNP: rs56690581
rs56690581
1 1.000 0.080 17 41620677 missense variant A/G snv 0.700 0
dbSNP: rs57674130
rs57674130
1 1.000 0.080 17 41624215 splice donor variant AGGAGGCCAGGCGGT/- delins 0.700 0
dbSNP: rs59977263
rs59977263
1 1.000 0.080 17 41624206 missense variant C/T snv 0.700 0