Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554875409
BAG3
10 119651752 stop gained G/A snv 1
rs1564773559
BAG3
10 119669920 frameshift variant -/TGTGTAC delins 1
rs727502897
BAG3
10 119651742 frameshift variant C/-;CC delins 1
rs727505283
BAG3
10 119651774 frameshift variant ACCGGCTG/- delins 1
rs730880055
BAG3
10 119676851 stop gained C/T snv 1
rs869025365
BAG3
10 119672657 splice donor variant G/A snv 1
rs1565050320
CSRP3
11 19185040 missense variant C/G snv 1
rs1565053085
CSRP3
11 19192353 synonymous variant C/T snv 1
rs1565053147
CSRP3
11 19192403 missense variant T/A snv 1
rs876657767
CSRP3
11 19186276 missense variant C/G;T snv 1
rs397516695
DES
0.882 0.040 2 219418869 missense variant T/A;C snv 5.5E-05 1
rs758537946
DSG2
18 31531044 missense variant G/A snv 8.0E-06 1.4E-05 1
rs148894066
DSP
6 7579697 stop gained C/A;T snv 1.4E-04 1
rs1561703922
DSP
6 7584830 frameshift variant ACAG/- delins 1
rs397516913
DSP
6 7567781 frameshift variant T/- delins 1
rs397516927
DSP
6 7577007 frameshift variant -/A delins 1
rs397516945
DSP
6 7559337 frameshift variant -/A ins 1
rs397516956
DSP
6 7562762 frameshift variant -/A delins 1
rs397516973
DSP
6 7565448 stop gained C/A;T snv 1.2E-05 1
rs727502994
DSP
6 7581565 splice donor variant -/AG delins 1
rs727504498
DSP
6 7570477 stop gained C/T snv 1
rs727504738
DSP
6 7559294 frameshift variant CC/AGCTCGAGTCCCTCG delins 1
rs727505077
DSP
6 7571432 frameshift variant A/- del 1
rs727505115
DSP
6 7572069 splice donor variant G/A;C snv 1
rs730880093
DSP
6 7583655 frameshift variant A/- del 1