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: rs746486469
rs746486469
GAN
1 1.000 0.080 16 81377436 missense variant G/A;T snv 3.2E-05 3.5E-05 0.720 1.000 8 2000 2013
dbSNP: rs776397915
rs776397915
GAN
1 1.000 0.080 16 81356956 missense variant C/T snv 8.0E-06 2.8E-05 0.710 1.000 4 2000 2014
dbSNP: rs1310137430
rs1310137430
GAN
1 1.000 0.080 16 81351651 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 6 2000 2007
dbSNP: rs144486241
rs144486241
GAN
1 1.000 0.080 16 81357902 missense variant C/G;T snv 8.0E-06; 1.4E-04 0.700 1.000 6 2000 2007
dbSNP: rs750258209
rs750258209
GAN
1 1.000 0.080 16 81315264 missense variant G/C snv 0.700 1.000 6 2000 2007
dbSNP: rs758756818
rs758756818
GAN
1 1.000 0.080 16 81363809 missense variant G/A snv 8.0E-06 0.700 1.000 6 2000 2007
dbSNP: rs759581558
rs759581558
GAN
2 1.000 0.080 16 81356957 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 6 2000 2007
dbSNP: rs747291494
rs747291494
GAN
1 1.000 0.080 16 81357003 splice donor variant G/A snv 5.2E-05; 4.0E-06 7.0E-06 0.700 1.000 3 2003 2014
dbSNP: rs112201678
rs112201678
GAN
1 1.000 0.080 16 81377435 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs119485088
rs119485088
GAN
1 1.000 0.080 16 81365432 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs119485089
rs119485089
GAN
1 1.000 0.080 16 81365423 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs119485090
rs119485090
GAN
1 1.000 0.080 16 81354723 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs119485092
rs119485092
GAN
1 1.000 0.080 16 81354535 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs119485093
rs119485093
GAN
1 1.000 0.080 16 81315156 missense variant C/A snv 0.700 0
dbSNP: rs119485094
rs119485094
GAN
1 1.000 0.080 16 81365405 stop gained C/T snv 0.700 0
dbSNP: rs119485095
rs119485095
GAN
1 1.000 0.080 16 81354627 missense variant G/A snv 0.700 0
dbSNP: rs1435035575
rs1435035575
GAN
1 1.000 0.080 16 81365396 missense variant G/C snv 4.0E-06 0.700 0
dbSNP: rs1555511861
rs1555511861
GAN
1 1.000 0.080 16 81363861 frameshift variant A/- delins 0.700 0
dbSNP: rs1555511978
rs1555511978
GAN
1 1.000 0.080 16 81365479 splice donor variant G/T snv 0.700 0
dbSNP: rs771785420
rs771785420
GAN
8 0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 0.700 0