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: rs770066665
rs770066665
GPR179
2 0.925 0.080 17 38337640 frameshift variant G/- delins 5.1E-04 4.8E-04 0.700 1.000 2 2012 2012
dbSNP: rs122456134
rs122456134
CACNA1F
2 0.925 0.080 X 49218511 stop gained G/A snv 0.700 1.000 1 1998 1998
dbSNP: rs1557110192
rs1557110192
CACNA1F
1 1.000 0.080 X 49227028 frameshift variant G/- del 0.700 1.000 1 1998 1998
dbSNP: rs1557110499
rs1557110499
CACNA1F
2 0.925 0.080 X 49228311 inframe deletion AAG/- delins 0.700 1.000 1 2001 2001
dbSNP: rs61751398
rs61751398
ABCA4
2 0.925 0.080 1 94042830 stop gained C/A;T snv 1.2E-05 1.4E-05 0.700 1.000 1 2002 2002
dbSNP: rs62638197
rs62638197
GRM6
2 0.925 0.080 5 178994808 missense variant G/A snv 9.2E-05 0.700 1.000 1 2005 2005
dbSNP: rs781463257
rs781463257
GRM6
1 1.000 0.080 5 178992011 frameshift variant C/- delins 2.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs80338903
rs80338903
USH2A
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 1 2019 2019
dbSNP: rs1200683561
rs1200683561
GPR179
1 1.000 0.080 17 38330861 frameshift variant -/TG delins 0.700 0
dbSNP: rs122456135
rs122456135
CACNA1F
2 0.925 0.080 X 49219344 stop gained G/A snv 0.700 0
dbSNP: rs1237461749
rs1237461749
GRM6
1 1.000 0.080 5 178994813 inframe insertion AGCGTCAGGCCGCCC/-;AGCGTCAGGCCGCCCAGCGTCAGGCCGCCC delins 7.1E-06 0.700 0
dbSNP: rs1485132228
rs1485132228
TRPM1 ; LOC105370752
2 0.925 0.080 15 31035551 stop gained G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1553186509
rs1553186509
ABCA4
1 1.000 0.080 1 94001914 missense variant T/C snv 0.700 0
dbSNP: rs1555418784
rs1555418784
TRPM1 ; LOC105370752
1 1.000 0.080 15 31028470 missense variant C/T snv 0.700 0
dbSNP: rs1555424166
rs1555424166
TRPM1
1 1.000 0.080 15 31063251 missense variant C/T snv 0.700 0
dbSNP: rs1555424849
rs1555424849
TRPM1
1 1.000 0.080 15 31067992 missense variant C/T snv 0.700 0
dbSNP: rs1555966753
rs1555966753
RPGR
1 1.000 0.080 X 38310760 frameshift variant T/- del 0.700 0
dbSNP: rs1555967281
rs1555967281
NYX
1 1.000 0.080 X 41474443 inframe deletion TCTTCC/- delins 0.700 0
dbSNP: rs1557106008
rs1557106008
CACNA1F
1 1.000 0.080 X 49210636 missense variant G/A snv 0.700 0
dbSNP: rs1557107192
rs1557107192
CACNA1F
1 1.000 0.080 X 49215471 frameshift variant TG/- del 0.700 0
dbSNP: rs1557107417
rs1557107417
CACNA1F
1 1.000 0.080 X 49216438 missense variant A/C snv 0.700 0
dbSNP: rs1557108147
rs1557108147
CACNA1F
1 1.000 0.080 X 49218881 splice donor variant C/T snv 0.700 0
dbSNP: rs1557109796
rs1557109796
CACNA1F
1 1.000 0.080 X 49226051 frameshift variant TCGGC/- delins 0.700 0
dbSNP: rs1557109912
rs1557109912
CACNA1F
1 1.000 0.080 X 49226402 splice donor variant CTCACAGGCAGCGTGTACAGCTGGCCAGAGCCCCCTCC/- delins 0.700 0
dbSNP: rs1557110046
rs1557110046
CACNA1F
1 1.000 0.080 X 49226673 frameshift variant -/A ins 0.700 0