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: rs387906868
rs387906868
SIX3 ; SIX3-AS1
1.000 0.080 2 44942603 missense variant G/T snv 1.7E-05 2.8E-05
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.800 1.000 1 2010 2010
dbSNP: rs1555303073
rs1555303073
COL4A1
0.851 0.120 13 110176912 missense variant C/T snv
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.700 1.000 1 2013 2013
dbSNP: rs587777379
rs587777379
COL4A1
1.000 0.080 13 110166277 missense variant C/T snv
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		0.700 1.000 1 2013 2013