| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs149948846 |
A>C,G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, 3 prime UTR variant, coding sequence variant |
|
rs200808105 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, 3 prime UTR variant, coding sequence variant |
|
rs373178770 |
C>A,G,T |
Pathogenic, uncertain-significance |
Stop gained, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs376106351 |
C>A,T |
Likely-pathogenic |
Synonymous variant, stop gained, coding sequence variant, intron variant |
|
rs587776929 |
TA>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs587776930 |
G>A |
Pathogenic |
Splice donor variant |
|
rs724159951 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs724159953 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs724159955 |
C>A |
Likely-pathogenic |
3 prime UTR variant, missense variant, coding sequence variant |
|
rs724159956 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797044519 |
C>A,G,T |
Pathogenic |
Synonymous variant, stop gained, genic upstream transcript variant, coding sequence variant |
|
rs797044520 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs797044522 |
AGAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797045041 |
G>A |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs797045042 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797045539 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869312708 |
C>T |
Pathogenic, likely-pathogenic |
Intron variant, coding sequence variant, stop gained |
|
rs886039652 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886041658 |
T>G |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886041765 |
GGTAAATGA>- |
Pathogenic |
Splice donor variant, coding sequence variant, intron variant |
|
rs886041778 |
ATGACCTT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886041993 |
CTTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057519402 |
CTTGA>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs1057519628 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064793546 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs1064794006 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064794894 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064795305 |
CAATGA>AGAG |
Likely-pathogenic |
Coding sequence variant, 3 prime UTR variant, frameshift variant |
|
rs1064796316 |
G>A |
Pathogenic |
Splice donor variant |
|
rs1064796713 |
AT>TCTACA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064796923 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1131691661 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1131691909 |
A>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1555977071 |
->T |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555977077 |
C>T |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant |
|
rs1555979106 |
->C |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1555979158 |
->A |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant |
|
rs1555985532 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555985554 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555985620 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555985642 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555985649 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555985742 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555990751 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555990816 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555990855 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555990955 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555990958 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555991325 |
A>G |
Likely-pathogenic |
Intron variant, splice acceptor variant |
|
rs1555995130 |
C>A |
Likely-pathogenic |
Stop gained, 3 prime UTR variant, coding sequence variant |
|
rs1569355102 |
TAAC>- |
Pathogenic |
Frameshift variant, genic upstream transcript variant, coding sequence variant |
|
rs1569380375 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1601315812 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1601316350 |
->TAAG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1601319352 |
CA>- |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant |