| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs2230234 |
A>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Missense variant, coding sequence variant |
|
rs113451409 |
G>A,C,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs121913006 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs121913007 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs121913008 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs121913009 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121913011 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121913012 |
G>A |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
|
rs121913013 |
G>A |
Uncertain-significance, likely-benign, risk-factor, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs185821167 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs191564916 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs193922639 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Missense variant, coding sequence variant |
|
rs199681901 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Missense variant, coding sequence variant |
|
rs200484060 |
T>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Missense variant, coding sequence variant |
|
rs200997703 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs370509593 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Missense variant, coding sequence variant |
|
rs373542380 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs376424003 |
G>A,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs397514038 |
A>G |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
|
rs397516702 |
G>A,C,T |
Uncertain-significance, likely-pathogenic |
5 prime UTR variant, missense variant, coding sequence variant, stop gained |
|
rs397516703 |
TG>- |
Pathogenic |
Coding sequence variant, stop gained, inframe indel |
|
rs397516709 |
T>C |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs397516712 |
C>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs553299589 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs730880347 |
->G |
Pathogenic, uncertain-significance |
Coding sequence variant, frameshift variant |
|
rs745457570 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs750176752 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs752432726 |
A>C,G |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs758282201 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant |
|
rs758537946 |
G>A |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs759944835 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs762526848 |
C>A,T |
Uncertain-significance, likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs775642244 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs780469370 |
T>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs781532110 |
->T |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs786204291 |
A>C,G |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
|
rs794728083 |
C>G,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs794728086 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs794728091 |
->T |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs794728092 |
GTATC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs794728093 |
CTTGAAGGGATG>- |
Uncertain-significance, pathogenic |
Coding sequence variant, splice acceptor variant |
|
rs794728094 |
G>- |
Likely-pathogenic |
Coding sequence variant, splice acceptor variant |
|
rs794728100 |
TA>ATTCTATTGTTGTGCTATTGTTAT |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs869025388 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs876657791 |
AGAG>-,AG |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
|
rs1021457619 |
G>A |
Pathogenic |
Genic upstream transcript variant, initiator codon variant, missense variant |
|
rs1039633976 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1187924885 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1382430464 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs1555627108 |
G>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1555671201 |
GT>- |
Likely-pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant |
|
rs1555671331 |
TCCTCC>- |
Pathogenic |
Stop gained, inframe indel, coding sequence variant |
|
rs1555671335 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555671441 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs1568098570 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs1568105371 |
TGAGT>- |
Pathogenic-likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, frameshift variant |
|
rs1598810829 |
GT>- |
Likely-pathogenic |
Splice donor variant |
|
rs1598811348 |
TTATCCTC>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |