| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs34521483 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
|
rs104894633 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs104894634 |
A>C,G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs142981643 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
|
rs149716029 |
GAG>- |
Benign, benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Inframe deletion, coding sequence variant |
|
rs368106957 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs376044849 |
C>A,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs398124419 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs527236033 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs727504118 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs727504119 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
|
rs750335388 |
C>G,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs753540389 |
C>G,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs755572135 |
G>A,C |
Likely-benign, pathogenic |
Coding sequence variant, missense variant |
|
rs878853142 |
GGCAT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886039715 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886041916 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886044681 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064796156 |
AGAC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064796209 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1131691617 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1131691817 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1135401792 |
AAGA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555565108 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1555565170 |
->AGCACGCCACAGTCCACGCATGCGGAGC |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555565243 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555565426 |
CCTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555565492 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555565533 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555565674 |
GCC>CT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555566042 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555566124 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555566164 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1567917533 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1598086801 |
GTGG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1598088228 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1598088235 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1598089943 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1598090354 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1598090745 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1598091391 |
TGAG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1598092034 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1598092236 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1598093659 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |