Source: CURATED ×
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: rs1554986754
rs1554986754
PAX6
2 0.925 0.080 11 31806409 start lost C/A;T snv 0.700 0
dbSNP: rs1565245598
rs1565245598
PAX6
2 0.925 0.080 11 31802730 frameshift variant -/C delins 0.700 0
dbSNP: rs1565245835
rs1565245835
PAX6
2 0.925 0.080 11 31802739 frameshift variant CGCTG/GGTT delins 0.700 0
dbSNP: rs587778873
rs587778873
CYP1B1
2 0.925 0.040 2 38071145 frameshift variant TGGCATGAGG/-;TGGCATGAGGTGGCATGAGG delins 0.700 0
dbSNP: rs587778874
rs587778874
PAX6
1 1.000 11 31801766 missense variant C/A snv 0.700 0
dbSNP: rs72549387
rs72549387
CYP1B1 ; CYP1B1-AS1
5 0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04 0.700 0
dbSNP: rs886042838
rs886042838
PAX6
2 0.925 0.080 11 31800856 splice acceptor variant C/- delins 0.700 0