| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28939069 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs28939070 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
|
rs121908430 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs121908431 |
G>A,C |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs121908432 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs121908433 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121908434 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
|
rs121908435 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121908436 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs148023627 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
|
rs200964070 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs201030937 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
|
rs368166434 |
G>A,C |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs748664291 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs751565386 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
|
rs752405769 |
A>C,G |
Pathogenic |
Intron variant |
|
rs864621974 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886040971 |
G>A,T |
Pathogenic |
Synonymous variant, stop gained, coding sequence variant |
|
rs886042507 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057518791 |
C>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1057518972 |
C>T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs1064793885 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1064794697 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1156330285 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs1554592981 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554592995 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554593085 |
GATGTCCTGT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554593099 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554595857 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554595930 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554596004 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554596063 |
GC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554596193 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554596300 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554596328 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554596391 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554596393 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs1554596397 |
A>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554596418 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1554596430 |
->ATCTG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554598891 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554598994 |
->TCTGATCTTCCTTTGTCTCCAGTGA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554616802 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554616950 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554616971 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554617011 |
CTCT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554617078 |
->GTTTTGTT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554617549 |
C>A |
Pathogenic |
Splice donor variant |
|
rs1554617561 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1554617567 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554617573 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1554617580 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1554617581 |
T>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1554617582 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1563623987 |
A>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1563637033 |
ATGGAGCTGTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1563638218 |
AG>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1563638577 |
->GCAA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1563714392 |
->AAGGCGCT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1586249260 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1586250578 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1586254022 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1586430684 |
C>T |
Pathogenic |
Splice donor variant |
|
rs1586430715 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1586431452 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1586431903 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1586464368 |
CTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |