SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs137854585 |
C>A,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs137854586 |
G>A,C |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs137854587 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs137854588 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs137854589 |
G>A,C |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs137854590 |
G>A |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs137854591 |
A>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs137854592 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs137854593 |
A>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs137854594 |
C>T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs137854595 |
C>A,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs137854596 |
C>G |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs151344454 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs151344474 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
rs151344481 |
C>A,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs151344482 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs151344497 |
A>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs151344498 |
A>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs193922445 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs193922446 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs193922448 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs193922449 |
G>T |
Pathogenic-likely-pathogenic |
Coding sequence variant, stop gained |
rs193922450 |
C>A,T |
Likely-pathogenic, likely-benign |
Synonymous variant, missense variant, coding sequence variant |
rs200129367 |
C>G,T |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained |
rs387906485 |
G>A,T |
Pathogenic |
Synonymous variant, coding sequence variant |
rs387906486 |
CCG>GGT |
Pathogenic |
Stop gained, inframe indel, coding sequence variant |
rs782424820 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs886039333 |
G>T |
Pathogenic |
Splice donor variant |
rs886039334 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
rs886039335 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs886039336 |
A>T |
Pathogenic |
Splice acceptor variant |
rs886039337 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs886039338 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs886039563 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
rs886041191 |
->AGGG |
Pathogenic |
Frameshift variant, coding sequence variant |
rs886041192 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs886041193 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs886041194 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
rs886041195 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs886041312 |
ATTA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs886041582 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1057517730 |
AGTG>- |
Pathogenic |
Coding sequence variant, splice donor variant, intron variant |
rs1057518579 |
A>C |
Pathogenic |
Splice acceptor variant |
rs1057521937 |
A>T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs1064794086 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1131691401 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1131691828 |
G>T |
Pathogenic |
Splice donor variant |
rs1131691836 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1453468510 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
rs1556464116 |
TTTGTCATTGT>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant |
rs1556464542 |
GCTGGGGTTGAACGTCTTCCTCTTTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1556464554 |
TCTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1556464581 |
G>T |
Likely-pathogenic |
Splice donor variant |
rs1556464882 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1556468360 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1556468363 |
->ACTT |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1556469197 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1556470775 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1556470794 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1556471620 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
rs1556472628 |
->GTATGTGCTTTTACAGAATGTCTCTTTTTTTTCTGAATTCATGTCCTTTCCTGTAGGCCAATCACTTTGCTGTGCACCATGATGAGGAGAAAGATGTGATCACAGGCCTGAAACAAAAGACTTTGTATGGACGGCCCAACTGGGATAATGAATTCAAGACAATTGCAAGTCAACACCCTAAGTAAGGAGTCTGTCACCAAGATGTTTTTGAGGCTTGCATCTGCCTAAAGCGGCAGCCCCTATACATAT |
Pathogenic |
Intron variant, coding sequence variant, splice acceptor variant, splice donor variant |
rs1556473078 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1556473119 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs1569478551 |
T>C |
Pathogenic |
Intron variant |
rs1569479943 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1569479953 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1569480031 |
->G |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1569480333 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1602173465 |
T>- |
Likely-pathogenic |
Splice donor variant |
rs1602175016 |
G>A |
Pathogenic |
Intron variant |
rs1602182150 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1602183161 |
CC>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1602183244 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
rs1602183679 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
rs1602183698 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1602184316 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1602185687 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
rs1602185766 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |