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: rs202247814
rs202247814
PCCA
2 1.000 0.080 13 100155090 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs745743737
rs745743737
CAVIN4
1 9 100585774 missense variant C/G;T snv 8.0E-06; 3.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs199473684
rs199473684
GLA ; RPL36A-HNRNPH2
3 0.925 0.160 X 101399747 3 prime UTR variant C/T snv 0.700 0
dbSNP: rs397515870
rs397515870
GLA ; RPL36A-HNRNPH2
2 1.000 0.160 X 101400692 missense variant G/C;T snv 0.700 0
dbSNP: rs886039136
rs886039136
GLA ; RPL36A-HNRNPH2
1 X 101403885 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs501192
rs501192
CASP1
3 0.925 0.200 11 105029658 splice region variant C/T snv 0.17 0.15 0.010 1.000 1 2017 2017
dbSNP: rs561901401
rs561901401
MUC2 ; LOC107987157
2 1.000 0.040 11 1074959 non coding transcript exon variant G/C;T snv 1.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs745428980
rs745428980
MUC2
2 1.000 0.040 11 1075743 non coding transcript exon variant G/A;T snv 8.2E-06; 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs12212067
rs12212067
FOXO3
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs672601347
rs672601347
COL4A1
3 0.925 0.120 13 110179298 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs267607004
rs267607004
RBM20
4 0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs397516607
rs397516607
RBM20
4 0.925 0.040 10 110821356 missense variant G/A snv 0.700 0
dbSNP: rs1566147422
rs1566147422
MYL2
1 12 110911146 frameshift variant AG/- del 0.700 0
dbSNP: rs104894369
rs104894369
MYL2
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs35049558
rs35049558
MYL2
8 0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs751392310
rs751392310
MYL2
1 12 110919103 inframe deletion CCT/- delins 7.0E-06 0.700 0
dbSNP: rs104894201
rs104894201
CRYAB
12 0.763 0.280 11 111908934 missense variant T/C snv 0.060 1.000 6 2005 2019
dbSNP: rs387907339
rs387907339
CRYAB
4 0.882 0.280 11 111908967 missense variant C/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs202024436
rs202024436
CRYAB
1 11 111908969 splice acceptor variant T/C snv 3.6E-05 2.1E-05 0.700 0
dbSNP: rs397516686
rs397516686
CRYAB ; HSPB2 ; HSPB2-C11orf52
1 11 111911722 start lost C/T snv 6.7E-05 2.8E-05 0.700 0
dbSNP: rs786205436
rs786205436
SDHD
5 0.882 0.080 11 112088972 missense variant A/G;T snv 0.710 1.000 1 2015 2015
dbSNP: rs2043055
rs2043055
IL18
3 0.925 0.080 11 112160901 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
4 0.925 0.040 6 118558946 missense variant C/T snv 0.700 0
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
4 0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05 0.700 1.000 3 2006 2013
dbSNP: rs111033560
rs111033560
PLN ; CEP85L
9 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.700 0