| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs111392631 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant, downstream transcript variant, genic downstream transcript variant |
|
rs119466000 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs144732922 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs146515622 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs148575027 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs149693840 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs181626399 |
G>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant |
|
rs190007694 |
T>G |
Likely-pathogenic |
Intron variant |
|
rs199706677 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs747400412 |
C>T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs750343121 |
AG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs752914914 |
GATA>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs758615834 |
C>A |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs759052246 |
A>- |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant |
|
rs762254417 |
->T |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs765911841 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs769022521 |
T>-,TT,TTTTTTTTTT |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, inframe insertion |
|
rs774857058 |
C>A,G,T |
Uncertain-significance, likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs774934005 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs775735922 |
G>A,T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs786205523 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs797044605 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
|
rs863224052 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs863224053 |
A>G |
Pathogenic |
Splice donor variant |
|
rs863224054 |
A>C,G |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs863224055 |
C>A,T |
Pathogenic |
Splice donor variant |
|
rs863224057 |
A>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs863224058 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant |
|
rs863224059 |
CC>AAA |
Pathogenic |
Coding sequence variant, non coding transcript variant, splice donor variant |
|
rs863225443 |
C>A,G |
Pathogenic |
Genic downstream transcript variant, splice donor variant, intron variant |
|
rs863225444 |
CCA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
|
rs863225445 |
CTT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, inframe deletion |
|
rs896524026 |
G>A,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, missense variant |
|
rs989113962 |
G>A |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1060499785 |
C>G,T |
Likely-pathogenic |
Splice donor variant |
|
rs1160846305 |
A>C,T |
Likely-pathogenic |
5 prime UTR variant, missense variant, non coding transcript variant, initiator codon variant |
|
rs1166980943 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs1202515342 |
C>A,T |
Likely-pathogenic |
Missense variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1249427615 |
C>G,T |
Likely-pathogenic |
Splice donor variant |
|
rs1266345519 |
C>A,T |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant |
|
rs1300725076 |
CTCT>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1301842578 |
A>T |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1453934366 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1475772376 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1553388067 |
A>C |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1553391303 |
ACTT>- |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant |
|
rs1553396232 |
A>C |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553398334 |
C>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553400391 |
C>A |
Likely-pathogenic |
Splice donor variant |
|
rs1553400685 |
TTATACTTTTCATA>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553400727 |
C>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553403303 |
C>T |
Likely-pathogenic |
Splice donor variant |
|
rs1553403596 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1553403879 |
CA>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553404194 |
A>T |
Likely-pathogenic |
Splice donor variant |
|
rs1553406772 |
G>A |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553408603 |
A>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553410852 |
A>G |
Likely-pathogenic |
Splice donor variant |
|
rs1553410866 |
G>A |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553410876 |
C>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553410995 |
G>C |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553411748 |
G>A |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553411751 |
G>T |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1553413047 |
TCAA>- |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1553416989 |
C>T |
Likely-pathogenic |
5 prime UTR variant, initiator codon variant, non coding transcript variant, missense variant |
|
rs1558936154 |
G>A |
Likely-pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1572894174 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant |
|
rs1572894465 |
C>A |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |