| 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 |