| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28935171 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs122454124 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs122454125 |
A>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs122454126 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs122454127 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs122454128 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs122454129 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs122454130 |
A>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs122454131 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs140987045 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs144984628 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Missense variant, coding sequence variant |
|
rs387906703 |
T>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs398122813 |
TCC>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs398124175 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs398124177 |
C>G,T |
Pathogenic |
Splice acceptor variant |
|
rs398124178 |
ACTA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs587776755 |
C>G |
Pathogenic |
Splice acceptor variant |
|
rs797045920 |
AACA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886041328 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886041330 |
TCA>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs886041331 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886043293 |
GTTC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057517947 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057518020 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057518853 |
->A |
Pathogenic, uncertain-significance |
Splice donor variant |
|
rs1057518914 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057520540 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1057523854 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057524314 |
C>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1064793356 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064793597 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064795003 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064796008 |
A>- |
Pathogenic |
Splice donor variant |
|
rs1085307639 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1160828151 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs1325953089 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555924331 |
G>A |
Pathogenic-likely-pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555924704 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555927532 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555927554 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555928716 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555928736 |
TA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555939331 |
C>G |
Likely-pathogenic |
Splice donor variant |
|
rs1555939377 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555939456 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555939921 |
TTC>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs1555942692 |
ACTT>- |
Pathogenic |
Intron variant, coding sequence variant, splice donor variant |
|
rs1555943479 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555943484 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555943492 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555943503 |
T>C |
Likely-pathogenic |
Intron variant |
|
rs1569190602 |
G>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1603417191 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs1603417213 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603417440 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1603420690 |
AAT>- |
Pathogenic |
Coding sequence variant, inframe deletion |
|
rs1603422403 |
A>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1603422409 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1603425338 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1603425345 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1603425362 |
TACTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603426293 |
T>C |
Pathogenic |
Intron variant |
|
rs1603426295 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603426296 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1603428228 |
C>T |
Pathogenic |
Splice donor variant |