Gene: ABCA13 ×
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: rs797045205
rs797045205
ABCA13
1 1.000 0.040 7 48387961 splice donor variant T/C snv 4.3E-06 1.4E-05 0.700 0
dbSNP: rs17132388
rs17132388
ABCA13
1 1.000 0.040 7 48494425 intron variant G/A snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs6583476
rs6583476
ABCA13
1 1.000 0.040 7 48204817 intron variant A/G snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs7789493
rs7789493
ABCA13
1 1.000 0.040 7 48412603 intron variant G/A snv 0.21 0.19 0.010 1.000 1 2017 2017