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: rs141634423
rs141634423
HAL
1 12 95983909 splice donor variant A/G snv 2.0E-04 1.3E-04 0.700 1.000 3 2004 2015
dbSNP: rs34457757
rs34457757
HAL
1 12 95987154 stop gained G/A;C snv 6.5E-04 0.700 1.000 3 2004 2015
dbSNP: rs76945459
rs76945459
HAL ; LOC102723340
1 12 95994932 splice donor variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 3 2004 2015