Source: UNIPROT

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: rs370130010
rs370130010
SCO2 ; NCAPH2
1.000 0.040 22 50524078 missense variant G/A;T snv 4.8E-05
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.700 1.000 3 2013 2015