SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs28940870 |
C>A,T |
Pathogenic, not-provided |
Coding sequence variant, missense variant |
rs112565881 |
G>A,T |
Pathogenic |
Splice donor variant |
rs121907947 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs121907948 |
G>A,C,T |
Not-provided, pathogenic |
Coding sequence variant, missense variant |
rs121907949 |
T>A |
Pathogenic |
Coding sequence variant, missense variant |
rs121907950 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs121907951 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
rs201363394 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs281875170 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
rs606231141 |
->TGT |
Pathogenic |
Coding sequence variant, inframe indel |
rs763451792 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant |
rs778625408 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
rs886041353 |
G>A |
Pathogenic |
Splice acceptor variant |
rs922149386 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
rs956390201 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant |
rs978962357 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1057520366 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1064793350 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs1064793792 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1064793917 |
AGTTCCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1085307611 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554994665 |
G>T |
Likely-pathogenic |
Intron variant |
rs1554994909 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554995260 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554995271 |
A>TCAGTGTCGTG |
Pathogenic |
Coding sequence variant, inframe indel, stop gained |
rs1554995774 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1554995860 |
C>G |
Pathogenic |
Coding sequence variant, stop gained |
rs1554996817 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1554996819 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
rs1554996833 |
GA>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1554996859 |
CAAGTTCC>A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1565168898 |
A>C,G |
Pathogenic |
Missense variant, initiator codon variant |
rs1565169419 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1565169621 |
TACC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1565170287 |
ATCC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1565170364 |
TC>AA |
Pathogenic |
Coding sequence variant, stop gained |
rs1565171906 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1565173309 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1565173405 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1565174105 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1590821401 |
G>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant |
rs1590822296 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1590822371 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1590822588 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1590822719 |
AGACCAACATGG>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
rs1590822739 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1590823884 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1590826571 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
rs1590826703 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
rs1590829609 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1590829616 |
GCTGCAGCTCTCCCA>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
rs1590829685 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1590829763 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1590831385 |
->GAACTGAC |
Pathogenic |
Coding sequence variant, inframe insertion, stop gained |
rs1590831432 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs1590831492 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
rs1590831545 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |