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: rs10871700
rs10871700 		1 18 72302261 intergenic variant A/G snv 0.72 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: rs11780883
rs11780883 		1 8 83834281 intergenic variant G/A;T snv 0.43 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: rs28447350
rs28447350 		1 13 64923076 intergenic variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs33428
rs33428
ZNF536
1 19 30446936 intron variant A/G snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs61865606
rs61865606
LOC105378568
1 10 132440647 intron variant T/C;G snv 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: rs73089338
rs73089338
CDCP1
1 3 45114350 intron variant T/C snv 5.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs77051277
rs77051277
LOC105371433
1 1 150167075 downstream gene variant A/G snv 2.2E-04 0.700 1.000 1 2019 2019
dbSNP: rs1057518773
rs1057518773
RYR1
1 19 38505868 stop gained G/A snv 0.700 0
dbSNP: rs1057518851
rs1057518851
TTN ; TTN-AS1
1 2 178571565 stop gained C/T snv 0.700 0
dbSNP: rs1057518855
rs1057518855
ANO5
1 11 22270443 splice donor variant -/T delins 0.700 0
dbSNP: rs1057518866
rs1057518866
DMD
1 X 32343174 stop gained A/C snv 0.700 0
dbSNP: rs1198364572
rs1198364572
TTN ; TTN-AS1
1 2 178671132 frameshift variant -/T delins 0.700 0
dbSNP: rs139552940
rs139552940
COL6A2
1 21 46131981 missense variant G/A snv 5.9E-05 4.2E-05 0.700 0
dbSNP: rs199474699
rs199474699
CYTB ; ND6 ; TRNP
1 MT 15990 non coding transcript exon variant C/T snv 0.700 0
dbSNP: rs199476140
rs199476140
COX1 ; ND1 ; ND2 ; TRNQ
1 MT 4365 non coding transcript exon variant -/A delins 0.700 0
dbSNP: rs370634440
rs370634440
RYR1
1 19 38463499 missense variant G/A;T snv 1.7E-04; 8.0E-06 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: rs774521989
rs774521989
COL6A2
1 21 46132125 missense variant C/T snv 1.6E-05 4.9E-05 0.700 0
dbSNP: rs797045477
rs797045477
COL6A1
1 21 45990771 splice acceptor variant A/G snv 0.700 0
dbSNP: rs797045478
rs797045478
COL6A2
1 21 46116045 missense variant G/A snv 0.700 0
dbSNP: rs797045479
rs797045479
COL6A3
1 2 237361150 stop gained G/A snv 0.700 0
dbSNP: rs797045730
rs797045730
MYH7 ; MHRT
1 14 23416071 missense variant A/G snv 0.700 0