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: rs1557110046
rs1557110046
CACNA1F
1 1.000 0.080 X 49226673 frameshift variant -/A ins 0.700 0
dbSNP: rs770380556
rs770380556
TRPM1 ; LOC105370752
1 1.000 0.080 15 31028410 frameshift variant -/A delins 0.700 0
dbSNP: rs1200683561
rs1200683561
GPR179
1 1.000 0.080 17 38330861 frameshift variant -/TG delins 0.700 0
dbSNP: rs1557107417
rs1557107417
CACNA1F
1 1.000 0.080 X 49216438 missense variant A/C 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: rs1557110499
rs1557110499
CACNA1F
2 0.925 0.080 X 49228311 inframe deletion AAG/- delins 0.700 1.000 1 2001 2001
dbSNP: rs886043488
rs886043488
GPR179
1 1.000 0.080 17 38339517 stop gained ACCTG/GTAGATCA delins 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: 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: rs104893789
rs104893789
RHO
3 0.882 0.080 3 129532711 missense variant C/A snv 0.010 1.000 1 1993 1993
dbSNP: rs121918582
rs121918582
PDE6B ; PDE6B-AS1
3 0.882 0.080 4 653912 missense variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs1413749549
rs1413749549
GRM6
1 1.000 0.080 5 178994793 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs397509378
rs397509378
LRIT3
2 0.925 0.080 4 109870067 stop gained C/A;T snv 8.0E-06 0.010 1.000 1 2013 2013
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: rs1448980326
rs1448980326
PDE6B
1 1.000 0.080 4 662539 missense variant C/G snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs397509379
rs397509379
LRIT3
2 0.925 0.080 4 109869900 stop gained C/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs786205853
rs786205853
GNAT1
2 0.925 0.080 3 50194111 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs748724069
rs748724069
GRM6
1 1.000 0.080 5 178986948 missense variant C/G;T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs104893796
rs104893796
RHO
4 0.851 0.080 3 129529014 missense variant C/T snv 0.040 1.000 4 1999 2016
dbSNP: rs122456133
rs122456133
CACNA1F
3 0.882 0.080 X 49228048 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs1349949257
rs1349949257
LPAR3
1 1.000 0.080 1 84865849 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1446132180
rs1446132180
FZD4 ; FZD4-DT
1 1.000 0.080 11 86954820 missense variant C/T snv 0.010 1.000 1 2013 2013
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