Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs77542162
rs77542162
ABCA6
1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.010 1.000 1 2019 2019