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: 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
dbSNP: rs1557110988
rs1557110988
CACNA1F
1 1.000 0.080 X 49230253 stop gained G/A snv 0.700 0
dbSNP: rs748046539
rs748046539
TRPM1 ; LOC105370752
1 1.000 0.080 15 31028451 missense variant A/G;T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs770380556
rs770380556
TRPM1 ; LOC105370752
1 1.000 0.080 15 31028410 frameshift variant -/A delins 0.700 0
dbSNP: rs781610444
rs781610444
TRPM1 ; MIR211
1 1.000 0.080 15 31067057 splice donor variant TTAC/- delins 1.6E-05 2.8E-05 0.700 0
dbSNP: rs782604129
rs782604129
RBP3
1 1.000 0.080 10 47349309 inframe deletion TTC/- delins 2.0E-05 0.700 0
dbSNP: rs886043488
rs886043488
GPR179
1 1.000 0.080 17 38339517 stop gained ACCTG/GTAGATCA delins 0.700 0
dbSNP: rs104893789
rs104893789
RHO
3 0.882 0.080 3 129532711 missense variant C/A snv 0.010 1.000 1 1993 1993
dbSNP: rs104893790
rs104893790
RHO
4 0.851 0.080 3 129529002 missense variant G/A snv 0.040 1.000 4 1994 2016