| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs104894857 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs104894858 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs104894859 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs137852527 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs138991195 |
T>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs139633545 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Coding sequence variant, intron variant, missense variant, genic downstream transcript variant |
|
rs141574558 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs144140265 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Intron variant, missense variant, coding sequence variant |
|
rs149276836 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
|
rs193922649 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs200297370 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
5 prime UTR variant |
|
rs200934351 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs201209341 |
G>A |
Conflicting-interpretations-of-pathogenicity |
5 prime UTR variant |
|
rs397516736 |
A>C,G,T |
Likely-pathogenic, uncertain-significance |
Synonymous variant, stop gained, coding sequence variant |
|
rs397516738 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs397516739 |
->T |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs397516740 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs397516743 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs397516751 |
TCAC>- |
Likely-pathogenic, pathogenic |
Splice donor variant, intron variant |
|
rs397516752 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs398123685 |
AAGTTTTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs727503118 |
G>A,T |
Likely-benign, pathogenic, benign |
Synonymous variant, stop gained, coding sequence variant |
|
rs727503119 |
C>A,T |
Pathogenic |
Splice donor variant |
|
rs727503120 |
C>T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs727503121 |
A>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs727503122 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs727504262 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs727504557 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs727504597 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs727504600 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs727504648 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs727504742 |
C>G,T |
Pathogenic |
Splice donor variant |
|
rs730880344 |
->TA |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs730880479 |
C>T |
Likely-pathogenic |
Intron variant |
|
rs730880483 |
G>T |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
|
rs730880485 |
A>G |
Pathogenic |
Splice donor variant |
|
rs730880490 |
A>T |
Pathogenic |
Splice donor variant |
|
rs730880492 |
->TGTTG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs730880493 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs730880496 |
C>G |
Pathogenic |
Splice acceptor variant |
|
rs730880498 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs773525538 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs876657648 |
A>C |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs876657696 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1057517940 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1060502302 |
CTC>TA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1060502303 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1060502305 |
G>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1060502306 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1064796635 |
C>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs1183994410 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1251075016 |
C>T |
Pathogenic |
Splice donor variant |
|
rs1271031981 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1327363415 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1352584474 |
C>A,G |
Uncertain-significance, pathogenic |
Intron variant |
|
rs1436181133 |
TGAGCCC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1556092459 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1556092556 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1556101420 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1556101523 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1556101640 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1556123906 |
T>AC |
Pathogenic |
Intron variant |
|
rs1556124149 |
T>A |
Likely-pathogenic |
Initiator codon variant, missense variant |
|
rs1569369194 |
A>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1569369940 |
->AAACTATTGCATCTAAAAAGGTCATTCAATGGAATTCTGATGGCCAAAAGTTCAT |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1569371330 |
CA>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569371591 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1602534666 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1602535807 |
A>C |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1602540152 |
ACAGTGCCATGGTC>- |
Pathogenic |
Coding sequence variant, frameshift variant |