Source: CURATED ×
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: 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: 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
3 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: rs751392310
rs751392310
MYL2
1 12 110919103 inframe deletion CCT/- delins 7.0E-06 0.700 0
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
4 0.882 0.080 11 112088972 missense variant A/G;T snv 0.710 1.000 1 2015 2015
dbSNP: rs111033559
rs111033559
PLN ; CEP85L
3 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
7 0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 0.700 0
dbSNP: rs730880492
rs730880492
LAMP2
2 1.000 0.160 X 120447993 frameshift variant -/TGTTG delins 5.5E-06; 5.5E-06 0.700 0
dbSNP: rs1554398705
rs1554398705
FLNC
1 7 128842906 frameshift variant -/C delins 0.700 0
dbSNP: rs778127887
rs778127887
TMEM43
1 3 14141613 stop gained C/T snv 1.6E-05 3.5E-05 0.700 0
dbSNP: rs267606976
rs267606976
PRKAG2
2 1.000 0.080 7 151564203 missense variant A/G snv 0.700 1.000 2 2005 2014
dbSNP: rs121908987
rs121908987
PRKAG2
6 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs193922697
rs193922697
PRKAG2
2 1.000 0.040 7 151576438 missense variant G/A;T snv 1.6E-05 0.700 0
dbSNP: rs1057517686
rs1057517686
ATAD3A
5 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs148515772
rs148515772
EMD
1 X 154380902 missense variant G/A snv 8.2E-05 8.5E-05 0.700 0
dbSNP: rs1569552936
rs1569552936
TAZ
1 X 154420249 frameshift variant C/- delins 0.700 0
dbSNP: rs1057518905
rs1057518905
DPM3
3 1 155140104 missense variant A/T snv 0.700 0
dbSNP: rs56793579
rs56793579
LMNA
3 0.851 0.240 1 156115102 missense variant C/G;T snv 0.710 1.000 3 2002 2010
dbSNP: rs267607571
rs267607571
LMNA
4 0.882 0.160 1 156134458 missense variant G/A;T snv 0.700 0