| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs80358247 |
A>C |
Not-provided, pathogenic |
Non coding transcript variant, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs80358248 |
G>A |
Not-provided, pathogenic |
Non coding transcript variant, coding sequence variant, genic upstream transcript variant, stop gained |
|
rs113605263 |
C>A,G,T |
Pathogenic, not-provided, uncertain-significance |
Genic downstream transcript variant, intron variant, splice acceptor variant |
|
rs121964852 |
C>T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs121964853 |
G>C,T |
Likely-pathogenic, pathogenic, not-provided |
Genic downstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant |
|
rs121964854 |
G>A,C |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs199474711 |
G>A |
Not-provided, pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant |
|
rs199474713 |
C>G |
Not-provided, pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, intron variant, 5 prime UTR variant, genic downstream transcript variant |
|
rs199474715 |
T>C |
Not-provided, pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant |
|
rs199474717 |
C>T |
Not-provided, pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant |
|
rs199474718 |
T>C |
Not-provided, pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant |
|
rs199474719 |
T>- |
Not-provided, pathogenic |
Genic downstream transcript variant, intron variant, frameshift variant, coding sequence variant |
|
rs199474720 |
T>G |
Not-provided, pathogenic, uncertain-significance |
Genic downstream transcript variant, intron variant, terminator codon variant, stop lost |
|
rs727504181 |
G>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs797046047 |
C>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant |
|
rs876661406 |
TTC>- |
Pathogenic |
Coding sequence variant, inframe deletion, intron variant, genic downstream transcript variant, non coding transcript variant |
|
rs876661407 |
CTT>- |
Pathogenic |
Coding sequence variant, inframe deletion, intron variant, genic downstream transcript variant, non coding transcript variant |
|
rs1553248515 |
G>T |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant |
|
rs1553249076 |
G>A |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant |
|
rs1553251644 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant |
|
rs1571418855 |
G>A |
Likely-pathogenic |
Coding sequence variant, intron variant, missense variant, 5 prime UTR variant, non coding transcript variant, genic downstream transcript variant |
|
rs1571456678 |
C>G |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant |
|