SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs75711155 |
A>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
rs113994104 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant |
rs113994105 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs113994106 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs113994107 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs113994108 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs113994109 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs113994111 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs113994112 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs113994113 |
C>G |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs113994114 |
C>G |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs121912857 |
C>G,T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs145172612 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs150129180 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs183563055 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant |
rs200786329 |
G>A |
Risk-factor, conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, missense variant |
rs267606743 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs267606744 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
rs281865426 |
CC>AA |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
rs397514624 |
G>A,C,T |
Risk-factor |
Coding sequence variant, genic downstream transcript variant, synonymous variant, missense variant |
rs567124920 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs587777379 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs587780588 |
C>T |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs606231464 |
G>-,GG |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
rs606231465 |
C>T |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
rs672601346 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs672601347 |
C>G,T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs672601348 |
G>A,C |
Pathogenic |
Genic downstream transcript variant, synonymous variant, missense variant, coding sequence variant |
rs672601349 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs747585517 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs797044867 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs797045034 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs886041714 |
C>A |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs886041965 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs1057517719 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057518100 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1057518654 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, synonymous variant |
rs1057523325 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1057523354 |
C>A |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1064794777 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1064795130 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1064795935 |
C>T |
Uncertain-significance, likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1064796811 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
rs1085307568 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1085307614 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1085307709 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1085307816 |
C>T |
Pathogenic |
Splice donor variant |
rs1085307907 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1085307967 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1085307982 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1131691834 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1461754052 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1555302449 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1555302454 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1555302645 |
C>A |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
rs1555302735 |
C>T |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
rs1555302922 |
C>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1555302942 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1555303010 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1555303073 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1555303720 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1555305682 |
->G |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1566349968 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1566351456 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1566353677 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
rs1566370178 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1594550371 |
C>A |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs1594555106 |
C>G |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs1594560766 |
C>G |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs1594566006 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1594566751 |
T>- |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1594568948 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1594579579 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |