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: rs28447350
rs28447350 		1 13 64923076 intergenic variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs138058572
rs138058572
ACADVL ; MIR324
3 1.000 0.200 17 7223993 missense variant G/A snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs751995154
rs751995154
ACADVL ; MIR324
3 1.000 0.200 17 7224011 missense variant G/A;C snv 2.8E-05 3.5E-05 0.700 0
dbSNP: rs1057518855
rs1057518855
ANO5
1 11 22270443 splice donor variant -/T delins 0.700 0
dbSNP: rs137854521
rs137854521
ANO5
9 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
dbSNP: rs375014127
rs375014127
ANO5
5 1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05 0.700 0
dbSNP: rs1555420508
rs1555420508
CAPN3 ; LOC105370794
3 15 42387891 splice region variant G/A snv 0.700 0
dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
21 0.827 0.120 15 42387803 frameshift variant A/- 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: 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: 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
dbSNP: rs886044514
rs886044514
CLTA ; GNE
2 1.000 0.120 9 36249352 stop gained C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs746361190
rs746361190
CNTNAP1
4 0.882 0.120 17 42691905 missense variant C/A snv 4.0E-06 0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 0
dbSNP: rs797045477
rs797045477
COL6A1
1 21 45990771 splice acceptor variant A/G snv 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: rs774521989
rs774521989
COL6A2
1 21 46132125 missense variant C/T snv 1.6E-05 4.9E-05 0.700 0
dbSNP: rs797045478
rs797045478
COL6A2
1 21 46116045 missense variant G/A snv 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: rs797045479
rs797045479
COL6A3
1 2 237361150 stop gained G/A 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: rs199474699
rs199474699
CYTB ; ND6 ; TRNP
1 MT 15990 non coding transcript exon variant C/T snv 0.700 0