| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs112803404 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign |
Coding sequence variant, synonymous variant |
|
rs121913678 |
G>A,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs138747073 |
C>A,G,T |
Pathogenic, likely-benign |
Stop gained, coding sequence variant, synonymous variant |
|
rs141088742 |
C>G,T |
Benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs144434028 |
C>T |
Benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs148410675 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs267606826 |
C>A,G,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs267606827 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs267606828 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs398124201 |
AGCAGC>-,AGC,AGCAGCAGC |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Inframe deletion, coding sequence variant, inframe insertion |
|
rs398124202 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic, likely-benign |
Coding sequence variant, missense variant, stop gained |
|
rs398124204 |
G>-,GG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs538358023 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs570981209 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, synonymous variant |
|
rs587783629 |
C>-,CC,CCC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs587783631 |
ACCCGCCGCC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs587783635 |
GGGGCGCCCCGGCCGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs587783636 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs587783637 |
G>A,C,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs587783638 |
C>G |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs587783640 |
G>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs587783641 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs587783642 |
C>A,G |
Pathogenic |
Coding sequence variant, stop gained |
|
rs587783643 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs727503934 |
TTACTACC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs727503935 |
G>A |
Likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs747138265 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs760663911 |
A>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs761703699 |
CGCCGC>-,CGC,CGCCGCCGC |
Conflicting-interpretations-of-pathogenicity |
Inframe deletion, inframe insertion, coding sequence variant |
|
rs762634382 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs764343290 |
C>G,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant |
|
rs767961672 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant, synonymous variant |
|
rs786200975 |
GCCGCCGCC>-,GCCGCC,GCCGCCGCCGCC,GCCGCCGCCGCCGCC,GCCGCCGCCGCCGCCGCC |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Inframe deletion, inframe insertion, coding sequence variant |
|
rs786204998 |
TC>CT |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs786204999 |
C>G,T |
Pathogenic |
Stop gained, coding sequence variant, synonymous variant |
|
rs786205000 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs786205001 |
C>-,CC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs786205003 |
GG>C,T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs786205004 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs786205005 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs786205006 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs786205007 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
|
rs786205008 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs786205009 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs786205010 |
ACGTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs786205011 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs786205486 |
A>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs796052453 |
C>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs796052458 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs796052461 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs796052462 |
C>A,G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs796052463 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs796052464 |
C>G |
Pathogenic |
Stop gained, coding sequence variant |
|
rs796052465 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs796052468 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs796052469 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs796052474 |
C>-,CC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs796052476 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs796052477 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs796052481 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs796052484 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs796052485 |
GC>ACCG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs796052486 |
TCTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869312700 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs869312961 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs879255530 |
A>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs886041744 |
T>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1057516138 |
G>C,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057517859 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1057518165 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant, synonymous variant |
|
rs1057518196 |
CG>GTC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057520663 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1057520780 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1057521783 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064793481 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064796823 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064797030 |
GC>TT |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1064797186 |
A>C |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1085307753 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1085307966 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1131691540 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1452295073 |
G>-,GG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555321206 |
->GCCGCCCGCC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555321237 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555321264 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555321279 |
G>C,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs1555321294 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555321301 |
C>G |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1555321302 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555321311 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1555321337 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1555321339 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1555321345 |
CCACTACGAC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555321351 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1555321353 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1555321361 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1555321366 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555321367 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555321369 |
->C |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555321380 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555321382 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555321400 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555321402 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555321405 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1566445169 |
AGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1566445489 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1594382746 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1594382930 |
CCGCCCGCCCCGCAACCGCCGCCGCCGCCGCAGCAGCAGCAGCCGCCGCCGCCGCCGCCCCCGGCACCGCAGCCCCCCCAGACGCGGGGCGCCCCGGCCGCCG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1594383056 |
CGCCGCCG>AGCCGCCCCC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1594383151 |
->GG |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1594383538 |
->AACG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1594383576 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1594383704 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1594383773 |
->ACTA |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1594383798 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1594384015 |
->AACGGCAC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1594384249 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant |