| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28933372 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs34245321 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, benign, likely-benign |
Synonymous variant, coding sequence variant |
|
rs79625212 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs116840742 |
TCGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs116840743 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs116840744 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs116840745 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs116840746 |
CC>AT |
Pathogenic |
Coding sequence variant, stop gained |
|
rs116840747 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs116840748 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs116840749 |
G>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs116840750 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs116840751 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs116840752 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs116840753 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs116840754 |
CATCGGTCAGAGGAAGCTC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs116840755 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs116840756 |
GTTTTAGCCTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs116840757 |
GTTTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs116840758 |
C>T |
Pathogenic |
Splice donor variant |
|
rs116840759 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs116840760 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs116840761 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs116840762 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs116840763 |
G>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs116840764 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs116840765 |
C>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs116840766 |
G>A,C,T |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained |
|
rs116840767 |
AA>-,A |
Pathogenic |
Frameshift variant, coding sequence variant, stop gained |
|
rs116840768 |
C>A,G |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs116840769 |
C>A,G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs116840770 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs121917709 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs121917710 |
C>T |
Benign-likely-benign, benign, likely-pathogenic, uncertain-significance, likely-benign |
Missense variant, coding sequence variant |
|
rs121917711 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs121917712 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121917713 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs121917714 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs121917715 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs121917716 |
G>A |
Likely-benign, uncertain-significance, pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs146582871 |
G>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs148226583 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs149248727 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs199875457 |
A>C,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
|
rs398122899 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs748606221 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs758771584 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs760303531 |
A>G,T |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained |
|
rs772948115 |
G>A,C |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs779898173 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
|
rs780263938 |
G>C |
Risk-factor |
Coding sequence variant, missense variant |
|
rs886039667 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886043938 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs1057518698 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057520063 |
->A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1060499558 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064793685 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064796278 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1375768446 |
C>T |
Likely-pathogenic |
Splice donor variant |
|
rs1554304247 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554304380 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554304508 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554306031 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554306093 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554306094 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1554314581 |
->TGCTCTTGGGTGTCGAACTCCCTCGC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554314595 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1554315071 |
GTTCAGAACCGTAGGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1554317931 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1562656759 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1562656975 |
G>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1562657370 |
->TAATCTGCCC |
Likely-pathogenic |
Coding sequence variant, stop gained, inframe indel |
|
rs1562657560 |
TGACTCATT>A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1562667078 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1562690271 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1583500982 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1583505882 |
A>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1583728165 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1583728402 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1583728570 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1583729398 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1583729562 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1583734240 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1583747773 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1583801167 |
TA>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1583805203 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |