| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs121918279 |
C>G,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs121918280 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121918281 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs138187791 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided |
Coding sequence variant, intron variant, missense variant |
|
rs138495222 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, not-provided |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs140075817 |
T>G |
Likely-pathogenic, not-provided, likely-benign, benign, pathogenic |
Coding sequence variant, missense variant |
|
rs142565472 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, synonymous variant, missense variant |
|
rs148711133 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs267606786 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs369029338 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity, not-provided |
Missense variant, coding sequence variant |
|
rs376292686 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs527624522 |
C>T |
Likely-benign, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs750542485 |
G>A,C |
Pathogenic |
Intron variant, stop gained, coding sequence variant, missense variant |
|
rs754533434 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs763718818 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs764379119 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs772690312 |
C>T |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs864309636 |
CTGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs864309637 |
G>A |
Pathogenic |
Splice donor variant |
|
rs864309638 |
A>C |
Pathogenic |
Splice acceptor variant |
|
rs886039358 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886039565 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886039566 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886039567 |
G>A |
Pathogenic |
Splice donor variant |
|
rs886039744 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886041199 |
->GC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886041272 |
->TGCT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057521132 |
G>A,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs1064793854 |
A>G |
Pathogenic |
Splice acceptor variant |
|
rs1064796192 |
T>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1085307877 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1369420640 |
G>A,T |
Pathogenic |
Splice donor variant |
|
rs1450980907 |
G>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs1457613214 |
G>A |
Likely-pathogenic |
Synonymous variant, coding sequence variant |
|
rs1555002457 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555002460 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555002543 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1555005328 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555005398 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1555006433 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1555012835 |
G>A |
Pathogenic |
Coding sequence variant, intron variant, stop gained |
|
rs1564986609 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs1565196333 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1565196489 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1565197245 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1565199251 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1565205890 |
T>A |
Pathogenic |
Splice donor variant |
|
rs1590548183 |
AACCGGGCCTGTCT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1590548336 |
->AA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1590570665 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1590570953 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1590618771 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs1590618958 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1590647371 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1590667793 |
A>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |