| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28932769 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs56679084 |
C>G |
Uncertain-significance, pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs57120761 |
G>A,C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs57590980 |
T>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs57661783 |
C>A,T |
Pathogenic, not-provided |
Stop gained, missense variant, coding sequence variant |
|
rs57815192 |
T>A,C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs58008462 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs58064122 |
G>A,C |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs58075601 |
C>G,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs58536923 |
T>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs58645997 |
C>G,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs58732244 |
T>A |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs59285727 |
C>A,G,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs59565950 |
C>A,G,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs59568967 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs59628143 |
T>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs59661476 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs59793293 |
G>A,C,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs59985777 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs60095124 |
T>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs60269890 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs60343255 |
G>A |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs60449251 |
A>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs60551555 |
A>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs60825166 |
G>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs61060395 |
A>C,G,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs61497286 |
G>A |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs61622935 |
G>A,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs61726468 |
C>G,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs61726470 |
G>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs61726471 |
T>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs62635764 |
C>A |
Pathogenic, not-provided |
Downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant |
|
rs62636501 |
T>A |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
|
rs112611995 |
G>C |
Pathogenic |
Intron variant |
|
rs121909717 |
G>A,C,T |
Pathogenic, not-provided |
Genic downstream transcript variant, downstream transcript variant, synonymous variant, coding sequence variant, missense variant |
|
rs121909718 |
C>G |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
|
rs121909719 |
C>A |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
|
rs121909720 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs267607500 |
C>G,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607501 |
CCTT>ACTC |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607502 |
T>C |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607503 |
G>A |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607504 |
A>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607505 |
T>C |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607506 |
A>G,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607507 |
C>G,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607508 |
G>A,T |
Not-provided, pathogenic |
Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant |
|
rs267607509 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607510 |
C>T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs267607511 |
A>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607512 |
G>A,C |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607513 |
G>C |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607514 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607515 |
A>G,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607516 |
A>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607517 |
G>A,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607518 |
C>A,G,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607519 |
A>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607520 |
T>G |
Not-provided, pathogenic |
Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant |
|
rs267607521 |
T>A |
Not-provided, pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs267607523 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607525 |
T>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs267607526 |
C>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs571151302 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant, synonymous variant |
|
rs748860341 |
C>G,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, 3 prime UTR variant, intron variant |
|
rs775524073 |
G>A,T |
Likely-pathogenic |
3 prime UTR variant, intron variant, synonymous variant, coding sequence variant |
|
rs797044569 |
C>G,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs797044570 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044571 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044572 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044573 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044574 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044575 |
->GCCGCAGCT |
Pathogenic |
Inframe insertion, coding sequence variant |
|
rs797044576 |
->CGCAGC |
Pathogenic |
Inframe insertion, coding sequence variant |
|
rs797044577 |
A>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044578 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044579 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044580 |
CA>AG |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044581 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044582 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044583 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044584 |
->CAAGTG |
Pathogenic |
Inframe insertion, coding sequence variant |
|
rs797044585 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044586 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044587 |
G>C |
Pathogenic |
Coding sequence variant, synonymous variant |
|
rs797044588 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044589 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044590 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044591 |
C>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant |
|
rs797044592 |
CAGCTAAC>GAT |
Pathogenic |
Frameshift variant, terminator codon variant, splice donor variant, 3 prime UTR variant, intron variant |
|
rs1057518685 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1057518828 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1555573462 |
T>A |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant |
|
rs1555574517 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1567773470 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1597853099 |
G>A |
Likely-pathogenic |
Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant |
|
rs1597864461 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
|