| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs80356683 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs118203899 |
C>G,T |
Likely-pathogenic |
Stop gained, synonymous variant, coding sequence variant |
|
rs118203900 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs118203901 |
C>T |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
|
rs141812464 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs146325169 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs147889360 |
A>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs149195906 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs151190720 |
C>G,T |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, stop gained, coding sequence variant |
|
rs201307156 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs745512079 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs753268823 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs757617349 |
C>A,T |
Likely-pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs759509443 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs771613805 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs774080932 |
G>A,C |
Likely-pathogenic |
Splice acceptor variant |
|
rs776142807 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, 3 prime UTR variant |
|
rs778012079 |
TTTCAGA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs886045625 |
A>G |
Uncertain-significance, likely-pathogenic |
Initiator codon variant, missense variant |
|
rs1043996591 |
G>T |
Likely-pathogenic |
Splice donor variant |
|
rs1057516218 |
GG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057516383 |
CTGC>- |
Likely-pathogenic |
3 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1057516410 |
G>C |
Likely-pathogenic |
Splice donor variant |
|
rs1057516444 |
->AA |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1057516473 |
G>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1057516487 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs1057516569 |
AG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057516727 |
CA>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1057516806 |
GACA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057516935 |
TC>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1057517159 |
->G |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1057517353 |
->ATGGA |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1217053724 |
C>T |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1479808203 |
G>C,T |
Likely-pathogenic |
Initiator codon variant, missense variant |
|
rs1553262199 |
T>C |
Pathogenic |
Initiator codon variant, missense variant |
|
rs1553264644 |
->T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1553265770 |
A>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553265794 |
T>A |
Likely-pathogenic |
Splice donor variant |
|
rs1553265902 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553266052 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs1553266260 |
A>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553266433 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553266537 |
G>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant |
|
rs1553266671 |
T>C,G |
Likely-pathogenic |
Splice donor variant |
|
rs1553266871 |
GC>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1553267007 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs1553267060 |
T>G |
Likely-pathogenic |
Splice donor variant |
|
rs1553267345 |
->TAGCCCGG |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant |
|
rs1553267356 |
G>C |
Likely-pathogenic |
Splice donor variant, downstream transcript variant, genic downstream transcript variant |
|
rs1553267499 |
G>C |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1553267554 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1553267638 |
G>C |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1553267679 |
CA>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1553267870 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1553267882 |
GAAGCTTTCCCGAGCCAAGA>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1553267885 |
A>- |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1558088792 |
G>A |
Pathogenic |
Splice acceptor variant |
|
rs1558092158 |
G>T |
Likely-pathogenic |
Splice donor variant |
|
rs1558092501 |
G>A |
Pathogenic |
Splice acceptor variant |
|
rs1558095794 |
CAGAACC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1571530029 |
TCCCTGTCATA>AACCGC |
Pathogenic |
Coding sequence variant, stop gained, inframe indel |
|
rs1571535301 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1571538391 |
AGCCCGGACGGTGCTGTGGT>G |
Likely-pathogenic |
Frameshift variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant |