| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs200375156 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Missense variant, coding sequence variant, non coding transcript variant |
| rs201286421 |
C>T |
Pathogenic |
Intron variant, coding sequence variant, stop gained, non coding transcript variant |
| rs587776652 |
G>A |
Pathogenic |
Initiator codon variant, missense variant, non coding transcript variant |
| rs587776653 |
G>A,C,T |
Likely-pathogenic, pathogenic |
Splice donor variant, intron variant |
| rs587778661 |
C>T |
Uncertain-significance, likely-pathogenic, not-provided |
Coding sequence variant, non coding transcript variant, missense variant, intron variant |
| rs748440817 |
G>A,T |
Likely-pathogenic |
Splice donor variant |
| rs755235380 |
A>G,T |
Pathogenic, likely-pathogenic |
Initiator codon variant, missense variant, non coding transcript variant |
| rs756676111 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs764575966 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, intron variant, coding sequence variant |
| rs786202080 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786202200 |
G>A,T |
Likely-pathogenic |
Splice acceptor variant, intron variant |
| rs786203457 |
A>G |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs786205146 |
T>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs786205147 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, non coding transcript variant |
| rs794727791 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant, synonymous variant, non coding transcript variant |
| rs867966048 |
G>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs876658301 |
->T |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant, non coding transcript variant |
| rs898854295 |
A>G |
Likely-pathogenic, uncertain-significance, pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, missense variant |
| rs981049067 |
G>A,C |
Pathogenic, likely-pathogenic, uncertain-significance |
Stop gained, coding sequence variant, non coding transcript variant, intron variant, missense variant |
| rs1057517818 |
G>C |
Likely-pathogenic |
Splice donor variant, intron variant |
| rs1131691062 |
A>G |
Likely-pathogenic |
Intron variant, splice acceptor variant |
| rs1553260596 |
->TG |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs1553261757 |
CAGAC>- |
Likely-pathogenic |
Intron variant, coding sequence variant, splice acceptor variant, non coding transcript variant |
| rs1553264218 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
| rs1553265817 |
TATCATACCTGGAATG>- |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant, non coding transcript variant |
| rs1553266474 |
TGTGGGACCTAGGAAAAGGCCTGAAGATTCCCCAGCTATACCAGTCTGGAGTGGTTGTCCTGGTTCTTACTGTGTTGTCCTCTATGGGGCTGGCAGCCATGTGAA>- |
Pathogenic |
Inframe indel, non coding transcript variant, coding sequence variant, stop lost, 3 prime UTR variant, terminator codon variant |
| rs1558164647 |
G>A |
Likely-pathogenic |
Intron variant, splice donor variant |
| rs1558182956 |
G>- |
Likely-pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, splice donor variant |
| rs1571869304 |
->T |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
| rs1571889991 |
CTTT>- |
Pathogenic |
Intron variant, coding sequence variant, non coding transcript variant, frameshift variant |
|