| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs137854493 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs143713841 |
G>T |
Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign |
Coding sequence variant, intron variant, missense variant, genic downstream transcript variant |
|
rs368803937 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Synonymous variant, coding sequence variant, genic downstream transcript variant |
|
rs369382527 |
A>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
|
rs587784234 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs869312676 |
C>T |
Likely-pathogenic |
Intron variant, missense variant, genic downstream transcript variant, coding sequence variant |
|
rs886044499 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057518963 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057520737 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1064793755 |
T>G |
Pathogenic |
Splice acceptor variant |
|
rs1064795031 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064797373 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1253923818 |
C>A,T |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555951715 |
C>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs1555952648 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555988317 |
->C |
Pathogenic |
Initiator codon variant, frameshift variant |
|
rs1569211016 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569215382 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1569215808 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1569243931 |
->AAGTTCTT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569244467 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1602169116 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1602225800 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1602226670 |
C>T |
Pathogenic |
Splice donor variant |
|
rs1602231145 |
A>G |
Likely-pathogenic |
Splice donor variant |
|
rs1602231165 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |