Gene: ABCA6 ×
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: rs77542162
rs77542162
ABCA6
11 1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02 0.700 1.000 3 2015 2018
dbSNP: rs117753190
rs117753190
ABCA6
2 17 69140184 intron variant C/G snv 2.0E-02 0.700 1.000 2 2019 2019