Source: CLINVAR ×
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: rs1555578360
rs1555578360
BRCA1
1 1.000 0.120 17 43063353 frameshift variant -/T delins 0.700 1.000 1 2004 2004
dbSNP: rs1555587401
rs1555587401
BRCA1
1 1.000 0.120 17 43091910 frameshift variant C/- del 0.700 1.000 1 2004 2004
dbSNP: rs1555588460
rs1555588460
BRCA1
1 1.000 0.120 17 43092472 frameshift variant G/- delins 0.700 1.000 1 2004 2004
dbSNP: rs869320800
rs869320800
BRCA2
2 0.925 0.120 13 32379846 frameshift variant GTAAA/- delins 0.700 1.000 1 2004 2004
dbSNP: rs1064793881
rs1064793881
TP53
3 0.925 0.120 17 7673784 missense variant C/T snv 0.700 0
dbSNP: rs1064796722
rs1064796722
TP53
1 1.000 0.120 17 7676043 missense variant A/C;G snv 0.700 0
dbSNP: rs1114167776
rs1114167776
MSH6 ; FBXO11
2 1.000 0.120 2 47791020 frameshift variant -/T delins 0.700 0
dbSNP: rs1195793509
rs1195793509
TP53
1 1.000 0.120 17 7676210 stop gained -/CATT delins 0.700 0
dbSNP: rs1202793339
rs1202793339
TP53
1 1.000 0.120 17 7674972 splice acceptor variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1212996409
rs1212996409
TP53
1 1.000 0.120 17 7675197 stop gained T/A;C snv 0.700 0
dbSNP: rs1267047192
rs1267047192
TP53
1 1.000 0.120 17 7675997 frameshift variant -/C delins 0.700 0
dbSNP: rs1314180672
rs1314180672
CHEK1
1 1.000 0.120 11 125627605 splice acceptor variant A/G;T snv 7.0E-06 0.700 0
dbSNP: rs1327418487
rs1327418487
MRPS18C ; ABRAXAS1
1 1.000 0.120 4 83462555 frameshift variant -/T delins 7.0E-05 0.700 0
dbSNP: rs137852691
rs137852691
OPCML
1 0.925 0.120 11 132657203 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs1555525279
rs1555525279
TP53
2 1.000 0.120 17 7673795 missense variant A/C snv 0.700 0
dbSNP: rs1555525970
rs1555525970
TP53
1 1.000 0.120 17 7675064 stop gained G/A;C snv 0.700 0
dbSNP: rs1555526101
rs1555526101
TP53
1 1.000 0.120 17 7675115 stop gained G/A;C snv 0.700 0
dbSNP: rs1555526466
rs1555526466
TP53
1 1.000 0.120 17 7675989 splice region variant C/A;G;T snv 0.700 0
dbSNP: rs1555526721
rs1555526721
TP53
1 1.000 0.120 17 7676176 stop gained T/A;G snv 0.700 0
dbSNP: rs1558521605
rs1558521605
MSH2
1 1.000 0.120 2 47478328 stop gained -/GTAG ins 0.700 0
dbSNP: rs1558656674
rs1558656674
MSH6 ; FBXO11
1 1.000 0.120 2 47796010 inframe deletion AATTGGCAG/- delins 0.700 0
dbSNP: rs1558661873
rs1558661873
MSH6 ; FBXO11
1 1.000 0.120 2 47799474 frameshift variant AAAGATGGCACATATATCCAAGTATGATA/- del 0.700 0
dbSNP: rs1558664251
rs1558664251
MSH6 ; FBXO11
1 1.000 0.120 2 47800084 frameshift variant -/C ins 0.700 0
dbSNP: rs1558666905
rs1558666905
MSH6 ; FBXO11
1 1.000 0.120 2 47800819 stop gained G/T snv 0.700 0
dbSNP: rs1559423185
rs1559423185
BARD1
1 1.000 0.120 2 214780560 missense variant C/A snv 0.700 0