| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28936383 |
G>C |
Pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
|
rs104893868 |
A>C |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs104893869 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs104893870 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs104893871 |
A>T |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
|
rs142801720 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs149121189 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant, missense variant |
|
rs150518260 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs371706268 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs398123262 |
T>C |
Pathogenic |
Missense variant, initiator codon variant |
|
rs398123263 |
T>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs555514820 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs747809412 |
T>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs748602445 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs752492870 |
G>A,C |
Pathogenic, uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs762114570 |
TTCA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs762831481 |
AA>-,A,AAA |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs775458201 |
TT>-,T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs780596734 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs796065319 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886042503 |
AT>- |
Pathogenic, likely-pathogenic |
Frameshift variant, initiator codon variant |
|
rs886042546 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs936193061 |
C>T |
Likely-pathogenic |
Intron variant |
|
rs998759536 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs1013015106 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1057516360 |
ACAA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057516515 |
GAAT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057517051 |
TA>- |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1057517064 |
TTCTG>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057517205 |
ATCTTCCCGCGCCCGCCGCCGCC>- |
Likely-pathogenic |
5 prime UTR variant, initiator codon variant, frameshift variant |
|
rs1264362642 |
C>A,T |
Likely-pathogenic |
Splice donor variant |
|
rs1448040082 |
C>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs1553940079 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1553940262 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1553940274 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1553940661 |
A>C |
Likely-pathogenic |
Splice donor variant |
|
rs1553940663 |
C>A |
Likely-pathogenic |
Splice donor variant |
|
rs1553940687 |
CTCTC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1553940957 |
C>T |
Likely-pathogenic |
Splice donor variant |
|
rs1553940963 |
->CTGCCGCCATCTTCCCGCGCCCGCCGCCGCCG |
Uncertain-significance, pathogenic |
5 prime UTR variant, frameshift variant, initiator codon variant |
|
rs1578125670 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1578126090 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |