| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs34386552 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs34394958 |
A>C,G |
Benign-likely-benign, likely-benign, pathogenic, benign |
Non coding transcript variant, coding sequence variant, synonymous variant, missense variant |
|
rs34987997 |
T>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Non coding transcript variant, coding sequence variant, synonymous variant, missense variant |
|
rs56033670 |
G>C |
Conflicting-interpretations-of-pathogenicity, benign |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs121909579 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs139633388 |
C>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs151304828 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant, non coding transcript variant |
|
rs200683433 |
C>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs369900671 |
G>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs386134121 |
T>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs386134122 |
G>C |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs386134123 |
A>C,G |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs386134124 |
G>A,C,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs386134125 |
A>G |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs386134126 |
C>G |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs386134127 |
G>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs386134128 |
A>G,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs386134129 |
C>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, intron variant |
|
rs386134130 |
G>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs386134131 |
C>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs386134132 |
T>C |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs386134133 |
C>T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs386134134 |
C>A,T |
Pathogenic |
Splice donor variant |
|
rs386134135 |
C>T |
Pathogenic |
Splice acceptor variant |
|
rs386134136 |
C>T |
Pathogenic |
Splice donor variant |
|
rs386134137 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs386134138 |
->AC |
Pathogenic |
Non coding transcript variant, coding sequence variant, splice acceptor variant |
|
rs386134139 |
C>T |
Pathogenic |
Splice acceptor variant, intron variant |
|
rs386134140 |
C>A |
Pathogenic |
Splice donor variant |
|
rs386134141 |
C>A,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
|
rs386134142 |
C>T |
Pathogenic |
Splice acceptor variant, intron variant |
|
rs386134143 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs386134144 |
AA>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs386134145 |
->GTGTA |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs386134146 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, intron variant |
|
rs386134147 |
G>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, intron variant |
|
rs386134148 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant, intron variant |
|
rs386134149 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs386134150 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs386134151 |
->A |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs386134152 |
C>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs386134153 |
AG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs386134154 |
->T |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs386134155 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs386134156 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs529607771 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs587777922 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs750451693 |
C>T |
Likely-pathogenic, uncertain-significance |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs753254095 |
C>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, splice donor variant |
|
rs767161351 |
G>A,C,T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs769313989 |
A>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs776936158 |
C>T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Non coding transcript variant, coding sequence variant, intron variant, missense variant |
|
rs1057518247 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1064797073 |
C>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs1135401784 |
A>G |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs1553759167 |
TGGGGAATAATCCCATTCCACCTCCACTGCTGCGATATAGTATGTCCTCTCTCCCAGGTAGAAGGTGGAATCCTCAGACTGCCGCCTGCATTGGTTCACAGTATATTTTTGCTTCATGCCGCCTGTGTAATGATCAGTTGTAAGGCATTCAACATTAAAAGTCCCTGGAGTGGTAAATAAGAAAACATGTCACTTCTTTGCTAGTGCCCTCTGGGGCTCTCCACCTTCCTCAGAATTA>- |
Pathogenic |
Splice acceptor variant, non coding transcript variant, intron variant, coding sequence variant |
|
rs1553759338 |
GAAAAGTTTAGGTGCAGAATATTTATGGGAGTCATTCCCCTTCTAGTCTGATTTTCCAGCTATCTTTAAAAGGACCATAATCTAAAAAGGGATCATCTTGAGGAGCCTATGGAAGTGGAGAAAACCACACCATGTTCTTTTACTCCACATTGTCCTCAGTAACTAGGAAACAGACCTATCTGGTACATACTTCAGCTGATAGTGGCCTAGACTTGCTCTTTCAAAGATAGGAAGGGCACTTCAGAGGCTTGGGGA |
Pathogenic |
Splice donor variant, non coding transcript variant, intron variant, splice acceptor variant, coding sequence variant |
|
rs1553761391 |
->AC |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1553762556 |
C>T |
Pathogenic |
Splice donor variant |
|
rs1553765380 |
T>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs1559935542 |
->C |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1559940237 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
|
rs1576759850 |
A>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |