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: rs77051277
rs77051277
LOC105371433
1 1 150167075 downstream gene variant A/G snv 2.2E-04 0.700 1.000 1 2019 2019
dbSNP: rs1057518905
rs1057518905
DPM3
3 1 155140104 missense variant A/T snv 0.700 0
dbSNP: rs121908188
rs121908188
SELENON
25 0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04 0.700 0
dbSNP: rs199564797
rs199564797
SELENON
25 0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs745886248
rs745886248
SELENON
25 0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-06 0.700 0
dbSNP: rs797046047
rs797046047
TPM3
2 1.000 0.080 1 154170441 missense variant C/A snv 0.700 0
dbSNP: rs1057518851
rs1057518851
TTN ; TTN-AS1
1 2 178571565 stop gained C/T snv 0.700 0
dbSNP: rs1198364572
rs1198364572
TTN ; TTN-AS1
1 2 178671132 frameshift variant -/T delins 0.700 0
dbSNP: rs535661345
rs535661345
COL6A3
3 0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05 0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
33 0.742 0.320 2 178589003 stop gained G/A;T snv 0.700 0
dbSNP: rs746721983
rs746721983
TTN ; TTN-AS1
1 2 178706629 stop gained G/A snv 2.8E-05 2.1E-05 0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
8 1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs797045479
rs797045479
COL6A3
1 2 237361150 stop gained G/A snv 0.700 0
dbSNP: rs797046060
rs797046060
TTN ; TTN-AS1
1 2 178719588 frameshift variant GC/T delins 0.700 0
dbSNP: rs797046064
rs797046064
TTN ; TTN-AS1
1 2 178634010 frameshift variant CAAA/- delins 0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
dbSNP: rs73089338
rs73089338
CDCP1
1 3 45114350 intron variant T/C snv 5.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs140854723
rs140854723
EVC2
1 4 5634585 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10872257
rs10872257 		1 6 122969896 intergenic variant C/T snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs6925743
rs6925743
PPP1R14C
1 6 150170920 intron variant T/A snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs55960271
rs55960271
CLCN1
5 0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03 0.700 0
dbSNP: rs11780883
rs11780883 		1 8 83834281 intergenic variant G/A;T snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs1563221666
rs1563221666
SFTPC
14 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
3 0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs121908627
rs121908627
CLTA ; GNE
3 0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03 0.700 0