| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs35002351 |
G>- |
Pathogenic |
Splice acceptor variant, non coding transcript variant, coding sequence variant |
|
rs61736827 |
C>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Synonymous variant, missense variant, non coding transcript variant, coding sequence variant |
|
rs121912933 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs139070070 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, non coding transcript variant, synonymous variant |
|
rs140797509 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs142313124 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, not-provided |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs142890619 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs147729713 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Synonymous variant, non coding transcript variant, coding sequence variant |
|
rs150147262 |
G>A,C,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs150539264 |
C>A,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs183881247 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, benign |
Intron variant |
|
rs368595229 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs369126350 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, non coding transcript variant, coding sequence variant |
|
rs376478864 |
C>T |
Benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, non coding transcript variant, coding sequence variant |
|
rs387906606 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs545973022 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs559882772 |
G>C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs758190171 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, synonymous variant |
|
rs764693725 |
C>-,CC |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs765079080 |
T>G |
Pathogenic |
Intron variant |
|
rs769752636 |
G>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, non coding transcript variant, missense variant, stop gained |
|
rs772445337 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs777625241 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs786200922 |
G>T |
Pathogenic |
Intron variant |
|
rs786205100 |
C>-,CC |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs786205101 |
A>G |
Pathogenic |
Splice acceptor variant |
|
rs786205102 |
G>- |
Pathogenic |
Coding sequence variant, splice acceptor variant, non coding transcript variant |
|
rs794727114 |
G>C |
Pathogenic |
Splice acceptor variant |
|
rs794727760 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs863223444 |
T>A |
Likely-pathogenic |
Intron variant |
|
rs863223445 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs863223448 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs863223452 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Synonymous variant, coding sequence variant, non coding transcript variant |
|
rs863223453 |
G>A,C |
Likely-pathogenic |
Synonymous variant, coding sequence variant, missense variant, non coding transcript variant |
|
rs863223454 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs863223469 |
->C |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs863223470 |
->G |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs863223471 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs863223472 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs863223473 |
->C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs863223474 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs863223478 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs886042045 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs886042173 |
G>A |
Pathogenic |
Splice donor variant |
|
rs886043641 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs926426117 |
G>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1032017865 |
G>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, missense variant |
|
rs1057518653 |
T>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1057518871 |
C>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1057519596 |
->C |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1060502242 |
AG>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1060502248 |
G>A |
Pathogenic |
Splice donor variant |
|
rs1060502255 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1060502258 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1060502259 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, splice acceptor variant |
|
rs1064796684 |
G>T |
Pathogenic |
Splice donor variant |
|
rs1085307855 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1131691820 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1131691874 |
G>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1179967153 |
C>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1341789008 |
C>A,T |
Likely-pathogenic |
Synonymous variant, coding sequence variant, stop gained, non coding transcript variant |
|
rs1554781700 |
G>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1554787526 |
G>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1554787557 |
TG>- |
Pathogenic |
Inframe indel, non coding transcript variant, coding sequence variant, stop gained |
|
rs1554787779 |
G>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1554787811 |
G>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1554788339 |
G>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1554792005 |
G>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1554792011 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1554792869 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1554796176 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1554799402 |
G>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1554803622 |
->G |
Pathogenic |
Non coding transcript variant, splice acceptor variant, coding sequence variant |
|
rs1554805076 |
AGGAGAC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1554805142 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs1554805638 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1564418237 |
A>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1564446117 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1564453831 |
C>G |
Likely-pathogenic |
Intron variant |
|
rs1564453833 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, splice acceptor variant |
|
rs1564455577 |
G>T |
Likely-pathogenic |
Splice donor variant |
|
rs1564457102 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1564463870 |
G>T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs1564471440 |
->TCCAGGGAGACCTGGGC |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1564475090 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1564478485 |
G>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1564481053 |
G>A |
Pathogenic |
Splice donor variant |
|
rs1588448655 |
->CTTCTCCA |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1588449879 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1588477255 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1588551159 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1588551226 |
T>C,G |
Likely-pathogenic |
Splice donor variant |
|
rs1588562135 |
TG>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, splice donor variant |
|
rs1588577214 |
G>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1588578971 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |