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: rs1306231185
rs1306231185
MKKS
2 0.925 0.120 20 10407645 stop gained -/TTCA delins 4.0E-06 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1402837406
rs1402837406
KCNV2
3 0.882 0.080 9 2718093 frameshift variant CC/-;CCC delins 2.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs1557106557
rs1557106557
CACNA1F
2 1.000 0.040 X 49212756 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs61750641
rs61750641
ABCA4
7 0.790 0.080 1 94005499 missense variant C/T snv 3.5E-04 4.7E-04 0.700 1.000 1 2019 2019
dbSNP: rs61755783
rs61755783
PRPH2
11 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs764759172
rs764759172
ABCA4
3 0.925 0.040 1 94080692 frameshift variant G/- del 0.700 1.000 1 2019 2019