Source: CURATED ×
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: rs121908134
rs121908134
ESPN
1 1.000 1 6451926 missense variant A/C snv 4.1E-06 0.700 1.000 3 2004 2017
dbSNP: rs121908135
rs121908135
ESPN
1 1.000 1 6452001 missense variant G/A;T snv 2.0E-04; 1.3E-05 0.700 1.000 3 2004 2017
dbSNP: rs121908136
rs121908136
ESPN
1 1.000 1 6452092 missense variant G/A snv 1.4E-05 0.700 1.000 3 2004 2017
dbSNP: rs1485674839
rs1485674839
ESPN
1 1.000 1 6460027 stop gained G/C;T snv 4.0E-06 0.700 1.000 3 1998 2006
dbSNP: rs754472294
rs754472294
ESPN
2 1.000 1 6460077 frameshift variant C/- del 4.0E-06 0.700 0