| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs121912557 |
G>A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs121912558 |
C>T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs121912560 |
A>G |
Likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs121912561 |
C>T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs139664153 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs141845119 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs145564837 |
C>T |
Uncertain-significance, likely-benign, benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant |
|
rs397517045 |
->G |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
|
rs551348450 |
A>-,AA |
Pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs727503326 |
C>T |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant |
|
rs727504548 |
G>C |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant |
|
rs727504567 |
C>T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs727504743 |
AGA>-,AGAAGA |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, inframe deletion, inframe insertion, genic downstream transcript variant |
|
rs727505015 |
TGCTGG>ATCCTACATACTTAAAATTTCTT |
Likely-pathogenic |
Non coding transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs766700803 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs876657653 |
C>A,T |
Likely-pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant, non coding transcript variant |
|
rs876657709 |
AA>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs876657710 |
C>G |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs878853225 |
GGT>C |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, splice donor variant, non coding transcript variant |
|
rs1057523846 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1060499799 |
G>T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
|
rs1554204415 |
AT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554205683 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1554207040 |
CATTTG>AA |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554214085 |
A>G |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1554218566 |
C>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
|
rs1562201376 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1562283089 |
T>G |
Pathogenic |
Genic downstream transcript variant, intron variant |
|
rs1582024232 |
C>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583208411 |
TT>CTTTACTAAA |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |