SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs1805124 |
T>C |
Pathogenic, likely-benign, benign |
Coding sequence variant, missense variant |
rs7626962 |
G>A,T |
Pathogenic, benign, likely-benign, benign-likely-benign, risk-factor |
Coding sequence variant, intron variant, missense variant |
rs12720064 |
C>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
rs12720452 |
C>T |
Likely-benign, uncertain-significance, pathogenic, not-provided |
Missense variant, coding sequence variant |
rs28937316 |
C>A,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs28937317 |
T>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs28937318 |
C>A,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs28937319 |
G>A |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs41261344 |
C>T |
Pathogenic, risk-factor, uncertain-significance, benign-likely-benign, benign |
Coding sequence variant, missense variant |
rs41276525 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant, coding sequence variant, missense variant |
rs41311117 |
A>C,G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign, not-provided |
Coding sequence variant, missense variant |
rs41311121 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
rs41313031 |
G>A |
Likely-benign, pathogenic, benign |
Coding sequence variant, missense variant |
rs41313033 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign, benign, likely-benign |
Coding sequence variant, synonymous variant |
rs41315493 |
C>A,T |
Uncertain-significance, benign-likely-benign, benign, likely-pathogenic, likely-benign, not-provided |
Coding sequence variant, missense variant |
rs45471994 |
C>T |
Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, likely-benign, not-provided |
Intron variant, coding sequence variant, missense variant |
rs45475899 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs45489199 |
G>C,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, missense variant |
rs45514691 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Intron variant, coding sequence variant, missense variant |
rs45546039 |
C>A,T |
Pathogenic, not-provided |
Intron variant, coding sequence variant, missense variant |
rs45553235 |
G>T |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign, uncertain-significance |
Coding sequence variant, missense variant |
rs45563942 |
A>G |
Pathogenic, likely-benign, uncertain-significance |
Coding sequence variant, missense variant |
rs45620037 |
G>A |
Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, likely-benign, not-provided |
Intron variant, coding sequence variant, missense variant |
rs61737825 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs72549410 |
C>T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs72549411 |
G>T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, uncertain-significance |
Intron variant |
rs137854600 |
C>A,T |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs137854601 |
C>A,T |
Pathogenic, likely-pathogenic, not-provided |
Stop gained, missense variant, coding sequence variant |
rs137854602 |
G>A |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs137854603 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic, not-provided |
Missense variant, coding sequence variant |
rs137854604 |
G>A |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, not-provided |
Missense variant, coding sequence variant |
rs137854605 |
GA>TT |
Pathogenic |
Missense variant, coding sequence variant |
rs137854606 |
C>A |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs137854607 |
C>G,T |
Pathogenic, likely-pathogenic, not-provided |
Missense variant, intron variant, coding sequence variant |
rs137854608 |
C>T |
Pathogenic, not-provided, uncertain-significance |
Missense variant, coding sequence variant |
rs137854609 |
C>A,T |
Pathogenic, not-provided, uncertain-significance |
Missense variant, coding sequence variant |
rs137854610 |
C>T |
Pathogenic, not-provided, uncertain-significance |
Missense variant, coding sequence variant |
rs137854611 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs137854612 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs137854613 |
G>A,T |
Pathogenic, uncertain-significance |
Stop gained, synonymous variant, coding sequence variant |
rs137854614 |
T>C |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs137854615 |
A>G |
Pathogenic, not-provided |
Missense variant, coding sequence variant |
rs137854616 |
C>T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs137854617 |
C>A,T |
Pathogenic, likely-pathogenic, not-provided, uncertain-significance |
Stop gained, missense variant, coding sequence variant |
rs137854618 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant |
rs137854619 |
C>T |
Benign, likely-benign, pathogenic, not-provided, uncertain-significance |
Missense variant, coding sequence variant |
rs137854620 |
C>T |
Pathogenic |
Stop gained, intron variant, coding sequence variant |
rs150264233 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, benign, pathogenic, uncertain-significance, likely-benign |
Stop gained, coding sequence variant, missense variant |
rs187531872 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
rs199473044 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs199473045 |
C>A,T |
Pathogenic, not-provided, likely-benign |
Coding sequence variant, missense variant |
rs199473054 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473055 |
G>A,C |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473058 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs199473062 |
C>A,G,T |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
rs199473070 |
A>G,T |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, missense variant, intron variant |
rs199473071 |
C>T |
Not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, intron variant |
rs199473072 |
G>A |
Pathogenic, not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, intron variant |
rs199473073 |
A>G |
Not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, intron variant |
rs199473078 |
C>G |
Not-provided, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs199473082 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs199473083 |
C>T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473097 |
G>A |
Pathogenic, not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473100 |
G>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473101 |
C>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473105 |
A>G |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473108 |
G>A,C,T |
Not-provided, likely-pathogenic |
Coding sequence variant, synonymous variant, missense variant |
rs199473111 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
rs199473112 |
G>A,C |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, missense variant |
rs199473115 |
G>A,C |
Pathogenic, not-provided |
Coding sequence variant, synonymous variant, missense variant |
rs199473118 |
G>A |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, missense variant |
rs199473119 |
G>A,T |
Not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473121 |
C>T |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, missense variant |
rs199473124 |
A>T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473149 |
G>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473153 |
C>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
rs199473156 |
A>C,G |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473161 |
G>A,T |
Pathogenic, likely-pathogenic, likely-benign |
Synonymous variant, coding sequence variant, missense variant |
rs199473165 |
T>C |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473168 |
G>A |
Pathogenic, not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473169 |
T>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs199473171 |
G>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473172 |
C>A,T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473175 |
G>A,T |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
rs199473180 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473182 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs199473183 |
A>G |
Likely-benign, not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs199473187 |
G>A |
Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs199473198 |
T>G |
Not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473207 |
G>A |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, missense variant |
rs199473211 |
C>A,G |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
rs199473218 |
C>A,T |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
rs199473220 |
C>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473222 |
C>A |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473224 |
C>G,T |
Pathogenic, not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473225 |
G>A,C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473226 |
T>C |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, missense variant |
rs199473249 |
C>A,G |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
rs199473253 |
G>T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473259 |
G>C,T |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473260 |
T>C |
Not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473262 |
T>C,G |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473263 |
A>G |
Not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473266 |
G>C |
Not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473282 |
G>A,T |
Pathogenic, not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473283 |
C>A,G,T |
Pathogenic, not-provided, likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
rs199473284 |
G>A,C |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
rs199473286 |
C>T |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, missense variant |
rs199473288 |
G>A,T |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, missense variant |
rs199473292 |
C>G,T |
Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs199473293 |
C>G,T |
Not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473303 |
G>A,T |
Pathogenic, not-provided, uncertain-significance |
Synonymous variant, coding sequence variant, missense variant |
rs199473305 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs199473310 |
T>A,C,G |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, missense variant |
rs199473311 |
T>C |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473315 |
A>G,T |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473316 |
C>G,T |
Pathogenic, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs199473318 |
T>C,G |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473324 |
A>G,T |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473326 |
T>C |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, missense variant |
rs199473331 |
C>A,G,T |
Benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs199473335 |
G>T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473554 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs199473556 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473559 |
G>A,T |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473565 |
C>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473573 |
A>C |
Not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473576 |
G>A,C |
Not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473579 |
C>A,T |
Pathogenic, not-provided, likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
rs199473584 |
C>T |
Pathogenic, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473592 |
C>G,T |
Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs199473598 |
C>A,T |
Pathogenic, not-provided, uncertain-significance |
Coding sequence variant, missense variant, stop gained |
rs199473603 |
G>A |
Not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473606 |
C>A,T |
Pathogenic, not-provided |
Coding sequence variant, missense variant, stop gained |
rs199473609 |
C>T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473613 |
T>C |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473620 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, stop gained, intron variant |
rs199473621 |
C>T |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, intron variant |
rs199473623 |
C>T |
Pathogenic, not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473625 |
T>C |
Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs199473628 |
T>C |
Not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
rs199473631 |
C>T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs199473633 |
T>A,C |
Not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473635 |
G>A |
Not-provided, likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs199473638 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
rs200034939 |
C>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant, intron variant |
rs200334972 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant, missense variant |
rs200569112 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
rs200868190 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
rs368678204 |
G>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Intron variant |
rs368980118 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Coding sequence variant, synonymous variant |
rs369704754 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, intron variant, missense variant |
rs370346797 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, uncertain-significance |
Coding sequence variant, synonymous variant |
rs370438420 |
T>C |
Likely-pathogenic |
Intron variant, splice acceptor variant |
rs370588133 |
G>A |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs370694515 |
C>T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs372395294 |
T>C |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs373172185 |
A>G,T |
Pathogenic, likely-benign |
Coding sequence variant, synonymous variant, stop gained |
rs374557801 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs397514251 |
GGGGCTTCT>- |
Likely-pathogenic, pathogenic |
Inframe deletion, coding sequence variant |
rs397514252 |
->TT |
Pathogenic |
Intron variant |
rs397514446 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397514447 |
A>G |
Pathogenic |
Splice donor variant |
rs397514448 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs397514449 |
->CAT |
Pathogenic |
Inframe insertion, coding sequence variant |
rs397514450 |
->AC |
Pathogenic |
Coding sequence variant, frameshift variant |
rs483353016 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs557957405 |
C>A |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs587781159 |
G>A,T |
Pathogenic, conflicting-interpretations-of-pathogenicity, benign |
Stop gained, coding sequence variant, synonymous variant |
rs727503411 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs727504801 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs727505158 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs730880211 |
GC>AA |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Missense variant, coding sequence variant |
rs748312802 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs749697698 |
AAG>- |
Likely-pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, inframe deletion |
rs750013499 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs751050999 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, synonymous variant |
rs754221948 |
G>A |
Likely-pathogenic, pathogenic, uncertain-significance |
Coding sequence variant, synonymous variant, splice donor variant |
rs756159737 |
CT>- |
Likely-pathogenic, pathogenic, uncertain-significance |
Frameshift variant, coding sequence variant |
rs756474485 |
C>A,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs757532106 |
G>A |
Conflicting-interpretations-of-pathogenicity, pathogenic |
Stop gained, coding sequence variant |
rs759235726 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
rs759924541 |
C>A,G,T |
Pathogenic-likely-pathogenic, uncertain-significance |
Stop gained, intron variant, missense variant, coding sequence variant |
rs760011764 |
A>G |
Likely-pathogenic, uncertain-significance |
Intron variant, missense variant, coding sequence variant |
rs761117662 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs761505217 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs765669597 |
A>C,T |
Pathogenic, uncertain-significance |
Coding sequence variant, intron variant, stop gained |
rs766751878 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs772258197 |
C>A,G |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs774537241 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
rs777689378 |
T>C,G |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
rs780761880 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
rs786204839 |
A>G,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
rs786205271 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs794728843 |
C>T |
Pathogenic, likely-pathogenic |
Splice donor variant |
rs794728846 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
rs794728847 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728849 |
G>A,C |
Pathogenic, likely-pathogenic |
Missense variant, intron variant, stop gained, coding sequence variant |
rs794728850 |
T>G |
Pathogenic |
Intron variant, coding sequence variant, synonymous variant |
rs794728851 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs794728854 |
G>A,T |
Likely-benign, pathogenic |
Stop gained, coding sequence variant, synonymous variant |
rs794728858 |
C>T |
Pathogenic |
Splice acceptor variant |
rs794728859 |
T>C |
Pathogenic |
Splice acceptor variant |
rs794728864 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
rs794728865 |
G>A |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
rs794728868 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728873 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs794728875 |
A>G |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs794728876 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728877 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs794728879 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
rs794728880 |
A>G,T |
Likely-pathogenic |
Splice donor variant |
rs794728885 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728888 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728889 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728890 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728891 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728892 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728893 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728895 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728897 |
A>T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs794728898 |
T>C |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
rs794728900 |
C>A,T |
Likely-pathogenic |
Missense variant, stop gained, coding sequence variant |
rs794728902 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728903 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728906 |
GCTT>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
rs794728907 |
GC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728908 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728909 |
C>- |
Pathogenic |
Stop gained, coding sequence variant |
rs794728910 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728911 |
C>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
rs794728912 |
C>- |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
rs794728914 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728915 |
T>GGG |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728917 |
CACAGCGATGGG>ACACAGTCAGA |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728918 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728919 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728920 |
TGA>- |
Pathogenic |
Inframe deletion, coding sequence variant |
rs794728921 |
CTC>- |
Pathogenic |
Splice acceptor variant, intron variant, coding sequence variant |
rs794728922 |
GTT>- |
Not-provided, likely-pathogenic |
Inframe deletion, coding sequence variant |
rs794728924 |
ACAG>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
rs794728928 |
A>G,T |
Pathogenic |
Splice donor variant |
rs794728931 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs794728934 |
A>G,T |
Pathogenic, uncertain-significance |
Intron variant |
rs794728936 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs794728938 |
C>A,G |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
rs794728940 |
G>A |
Uncertain-significance, not-provided, pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
rs794728941 |
G>C,T |
Likely-pathogenic, uncertain-significance |
Stop gained, coding sequence variant |
rs794728942 |
->GT |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728943 |
T>- |
Pathogenic |
Splice acceptor variant, intron variant |
rs794728944 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs794728945 |
->TCAGA |
Pathogenic |
Stop gained, coding sequence variant |
rs863224532 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
rs863224533 |
AAG>TAC |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
rs863225273 |
C>T |
Pathogenic |
Intron variant, stop gained, coding sequence variant |
rs869025517 |
T>C |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs869025519 |
C>A,T |
Likely-pathogenic |
Missense variant, stop gained, coding sequence variant |
rs869025520 |
G>A |
Pathogenic, likely-pathogenic |
Intron variant, stop gained, coding sequence variant |
rs869025522 |
TCT>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
rs869025523 |
->CA |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs878855287 |
CCACAGCGATGGG>ACACAGTCAGA |
Pathogenic |
Frameshift variant, coding sequence variant |
rs878855292 |
G>A |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs878855296 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
rs886037903 |
AG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs886039018 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs886039455 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs886041848 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs977717858 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057518916 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1057523393 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1057524447 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs1060499940 |
GTA>- |
Pathogenic |
Inframe deletion, coding sequence variant |
rs1060499941 |
C>T |
Pathogenic |
Synonymous variant, coding sequence variant |
rs1060501114 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1060501127 |
AGTG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1060501130 |
C>A |
Likely-pathogenic |
Splice donor variant |
rs1060501135 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1060501136 |
C>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
rs1060501142 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1060501145 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1064792926 |
GGTGGCAATGCAG>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1064793326 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1064793651 |
->ATTGGAA |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1064794424 |
->TCAC |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1064795085 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1064795784 |
A>- |
Pathogenic, likely-pathogenic |
Intron variant, frameshift variant, coding sequence variant |
rs1064796233 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1085307527 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1085307710 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1131691708 |
CG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1204915217 |
C>T |
Likely-pathogenic, uncertain-significance |
Synonymous variant, coding sequence variant |
rs1207394743 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
rs1237724419 |
C>A,T |
Pathogenic-likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
rs1312714061 |
T>A,C |
Likely-pathogenic |
Splice acceptor variant |
rs1366120635 |
C>T |
Pathogenic, likely-pathogenic |
Splice donor variant |
rs1377226524 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
rs1417036453 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1450434935 |
C>-,CC |
Likely-pathogenic |
Coding sequence variant, intron variant, splice donor variant |
rs1474459822 |
->ATC |
Likely-pathogenic |
Inframe insertion, coding sequence variant |
rs1480085793 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1553605932 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1553607561 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1553607722 |
T>A |
Likely-pathogenic |
Missense variant, initiator codon variant |
rs1553692416 |
AG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1553692660 |
AG>- |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1553692734 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1553694426 |
G>- |
Pathogenic |
Stop gained, coding sequence variant |
rs1553695282 |
G>A |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
rs1553695398 |
CGGGA>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1553695764 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1553695847 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1553696647 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1553698563 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
rs1553699292 |
C>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
rs1553699607 |
->C |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1553699663 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1553699747 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1553699766 |
A>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1553700699 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1553703211 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs1553704183 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1553704878 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1553704898 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs1553705586 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
rs1553706324 |
C>G |
Uncertain-significance, likely-pathogenic |
Splice acceptor variant, intron variant |
rs1559720176 |
C>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1559720870 |
TA>- |
Pathogenic |
Stop gained, coding sequence variant |
rs1559720961 |
CTCA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1559721331 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
rs1559725687 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1559727990 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1559729142 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1559738598 |
G>C |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1559778838 |
G>A,C |
Likely-benign, likely-pathogenic |
Missense variant, synonymous variant, coding sequence variant |
rs1575703249 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1575705549 |
ATG>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
rs1575706847 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1575719863 |
T>C |
Likely-pathogenic |
Intron variant, splice acceptor variant |
rs1575728590 |
AG>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1575751854 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1575773471 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1575853007 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |