| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs6151414 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs6151429 |
T>C |
Benign, pathogenic, benign-likely-benign, other |
3 prime UTR variant |
|
rs28940893 |
G>A |
Pathogenic |
3 prime UTR variant, coding sequence variant, missense variant |
|
rs28940894 |
T>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs28940895 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs74315270 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs74315455 |
C>A,T |
Likely-pathogenic, not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs74315457 |
A>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs74315458 |
C>A,T |
Uncertain-significance, pathogenic |
5 prime UTR variant, coding sequence variant, missense variant |
|
rs74315459 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs74315460 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs74315461 |
C>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs74315462 |
G>A |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs74315463 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs74315464 |
G>A,C |
Uncertain-significance, not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs74315465 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs74315466 |
C>A,T |
Uncertain-significance, likely-benign, pathogenic |
Coding sequence variant, missense variant |
|
rs74315467 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs74315468 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs74315469 |
G>C,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs74315470 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs74315471 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs74315472 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs74315473 |
G>A |
Pathogenic-likely-pathogenic |
Coding sequence variant, missense variant |
|
rs74315474 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs74315475 |
T>A |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs74315476 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs74315477 |
C>G,T |
Uncertain-significance, pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs74315478 |
G>A,T |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs74315479 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs74315480 |
G>A,C |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs74315481 |
G>A |
Pathogenic |
Coding sequence variant, missense variant, synonymous variant |
|
rs74315482 |
G>A |
Pathogenic |
Stop gained, 3 prime UTR variant, coding sequence variant |
|
rs74315483 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs74315484 |
C>A |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
|
rs74315485 |
G>A,T |
Pathogenic |
3 prime UTR variant, coding sequence variant, missense variant |
|
rs80338815 |
C>T |
Pathogenic |
Splice donor variant |
|
rs80338819 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs80338820 |
C>A,T |
Likely-pathogenic, pathogenic |
Coding sequence variant, intron variant, missense variant, splice donor variant |
|
rs80338823 |
ACAGCTGCGTC>- |
Pathogenic |
Frameshift variant, 3 prime UTR variant, coding sequence variant |
|
rs121434215 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs148092995 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs148352371 |
C>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, 3 prime UTR variant, stop gained, missense variant |
|
rs199476345 |
T>C |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs199476349 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs199476352 |
G>A |
Pathogenic, not-provided |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs199476355 |
C>T |
Pathogenic-likely-pathogenic, not-provided |
Coding sequence variant, missense variant |
|
rs199476356 |
C>A,T |
Uncertain-significance, pathogenic, not-provided |
Coding sequence variant, missense variant |
|
rs199476359 |
G>A |
Conflicting-interpretations-of-pathogenicity, not-provided |
Coding sequence variant, missense variant |
|
rs199476366 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs199476371 |
GA>AG |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
|
rs199476382 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs199476384 |
A>G |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs199476389 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199476390 |
C>A,T |
Not-provided, likely-pathogenic |
Coding sequence variant, synonymous variant, missense variant |
|
rs199476391 |
C>A,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs370250328 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs398123411 |
T>C |
Pathogenic |
Intron variant, splice acceptor variant |
|
rs398123412 |
GA>- |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant |
|
rs398123413 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant |
|
rs398123414 |
G>- |
Pathogenic, pathogenic-likely-pathogenic |
Stop gained, intron variant, coding sequence variant |
|
rs398123415 |
C>- |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant |
|
rs398123416 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs398123418 |
G>A,C |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs398123419 |
C>A,T |
Pathogenic, likely-pathogenic, uncertain-significance |
Stop gained, missense variant, coding sequence variant |
|
rs527640350 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs551472773 |
G>A,C,T |
Pathogenic, benign |
Stop gained, missense variant, synonymous variant, coding sequence variant |
|
rs745884435 |
G>-,GG |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs750030142 |
C>-,CC |
Likely-pathogenic |
3 prime UTR variant, frameshift variant, coding sequence variant |
|
rs753415648 |
GGTCCCCA>- |
Likely-pathogenic |
Intron variant, frameshift variant, coding sequence variant |
|
rs754722529 |
C>A,T |
Likely-pathogenic |
Splice donor variant |
|
rs755635209 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, stop gained |
|
rs761555167 |
->G |
Likely-pathogenic |
3 prime UTR variant, frameshift variant, coding sequence variant |
|
rs761606317 |
C>-,CC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs761860059 |
G>A,C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
|
rs762284875 |
G>A |
Pathogenic-likely-pathogenic |
Coding sequence variant, stop gained |
|
rs763880042 |
C>A,G |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs765905826 |
GTATCACTG>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs767751622 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs768028181 |
G>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, stop gained |
|
rs769152137 |
T>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs769892461 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs774153480 |
GGG>-,GG,GGGG,GGGGGGG |
Uncertain-significance, likely-pathogenic, pathogenic |
Inframe deletion, 3 prime UTR variant, coding sequence variant, frameshift variant |
|
rs776748338 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs786200965 |
TTGCCG>CCCAAGGTT |
Uncertain-significance, likely-pathogenic |
Inframe indel, coding sequence variant |
|
rs786204599 |
->G |
Pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant |
|
rs786204673 |
G>- |
Pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs886041911 |
C>A |
Pathogenic |
Splice donor variant |
|
rs1057516288 |
CA>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, intron variant |
|
rs1057516373 |
->TA |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057516595 |
->TA |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs1057516638 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057516730 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1057516887 |
ACCG>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant, intron variant |
|
rs1057516907 |
G>- |
Pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057517036 |
C>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant |
|
rs1057517044 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1057517073 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057517237 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, 3 prime UTR variant |
|
rs1057517346 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057517429 |
CCGGCGG>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
|
rs1085308016 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1135401754 |
A>G |
Pathogenic |
Coding sequence variant, intron variant, missense variant |
|
rs1135401755 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1135401756 |
A>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1135401757 |
T>C |
Pathogenic |
Coding sequence variant, 3 prime UTR variant, missense variant |
|
rs1227301119 |
->TG |
Likely-pathogenic |
Intron variant, coding sequence variant, frameshift variant |
|
rs1375757476 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1555900150 |
G>- |
Likely-pathogenic |
3 prime UTR variant, coding sequence variant, stop gained |
|
rs1555900191 |
TATCACTGTGG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555900463 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555900623 |
->C |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555900678 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1555900900 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555900989 |
A>T |
Likely-pathogenic |
Splice donor variant |
|
rs1555901056 |
->G |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555901083 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1555901108 |
C>T |
Likely-pathogenic |
Intron variant, splice donor variant |
|
rs1555901112 |
GAGA>- |
Likely-pathogenic |
Intron variant, coding sequence variant, frameshift variant |
|
rs1555901170 |
A>G |
Likely-pathogenic |
Intron variant, initiator codon variant, missense variant |
|
rs1569077723 |
AAG>- |
Pathogenic |
Inframe deletion, intron variant, coding sequence variant |
|
rs1569081823 |
G>- |
Likely-pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1603444908 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603445003 |
->A |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603445026 |
G>A |
Pathogenic |
Intron variant, coding sequence variant, stop gained |