| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs117749531 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, likely-pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs121918312 |
C>A,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs143919208 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs145393807 |
A>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign |
Missense variant, coding sequence variant |
|
rs151331972 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, missense variant, synonymous variant |
|
rs199682693 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs200212999 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs201638005 |
G>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs387906874 |
C>T |
Likely-benign, uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs387906875 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, stop gained |
|
rs387906876 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs397514506 |
C>T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs397514507 |
T>C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs397516881 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs727502897 |
C>-,CC |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs727505109 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs727505283 |
ACCGGCTG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs730880055 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs751261054 |
C>A,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs775151738 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs786205466 |
G>A,C |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs794728981 |
CTGAAAGTGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs869025365 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs869248137 |
C>A,T |
Pathogenic |
Stop gained, coding sequence variant, synonymous variant |
|
rs876657634 |
C>T |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
|
rs876661342 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886039044 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886039182 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057517945 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1057518511 |
->GCCAC |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1060502815 |
A>G,T |
Likely-pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs1064795700 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1135402750 |
->T |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1473083093 |
C>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1554875409 |
G>A |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1554876984 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554876999 |
C>G |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1554877001 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1554877037 |
->C |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554877224 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554877731 |
AGGTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554877765 |
->C |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1564767043 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1564773559 |
->TGTGTAC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1564773589 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1564774433 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1589628864 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1589630001 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1589630130 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1589630141 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1589630173 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1589632398 |
TAAG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1589632876 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |