| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs200427211 |
C>A,T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant |
|
rs752738546 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs769546741 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, synonymous variant, genic downstream transcript variant, 5 prime UTR variant |
|
rs796052226 |
T>C |
Pathogenic |
Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs796052227 |
G>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs796052230 |
AT>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs796052231 |
C>T |
Pathogenic |
Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs796052234 |
C>T |
Pathogenic |
Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs796052235 |
G>A |
Likely-pathogenic, pathogenic-likely-pathogenic |
Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs796052238 |
G>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs797045024 |
T>C |
Pathogenic |
Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs797045025 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs797045026 |
C>T |
Pathogenic |
Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs869312692 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs869320681 |
C>A |
Pathogenic |
Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs875989802 |
G>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs875989803 |
G>T |
Pathogenic-likely-pathogenic |
Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs886039719 |
C>A |
Pathogenic |
Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs886041589 |
C>G |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant |
|
rs886041705 |
C>T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, intron variant, stop gained, coding sequence variant |
|
rs886041963 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs886043639 |
T>C |
Likely-pathogenic |
Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs1017583398 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant |
|
rs1057518171 |
CA>- |
Pathogenic |
5 prime UTR variant, genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1057518255 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1057518707 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1057519430 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1057519431 |
->A |
Pathogenic |
5 prime UTR variant, genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1057519446 |
G>A,C,T |
Pathogenic |
5 prime UTR variant, missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs1057521175 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1057521603 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1057523822 |
G>A |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1064793796 |
C>T |
Pathogenic |
5 prime UTR variant, missense variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs1064793858 |
C>G |
Pathogenic |
5 prime UTR variant, missense variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant |
|
rs1064794068 |
A>C |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1064794133 |
CTT>- |
Pathogenic |
Coding sequence variant, inframe deletion, genic downstream transcript variant, non coding transcript variant |
|
rs1064794574 |
C>G,T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1064794993 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1064795323 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1064795387 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1064796364 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1064796382 |
A>T |
Pathogenic |
5 prime UTR variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant, stop gained, intron variant, non coding transcript variant |
|
rs1064796429 |
T>C |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1064796820 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1064796827 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1064796924 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1131691299 |
C>- |
Pathogenic |
5 prime UTR variant, genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1131691314 |
G>TTC |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1131691571 |
TCA>CC |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1131691608 |
A>G |
Likely-pathogenic, pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1131691769 |
G>C |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1255183431 |
G>C,T |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1267519974 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
|
rs1555951992 |
->GC |
Drug-response |
Intron variant, non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant, 5 prime UTR variant |
|
rs1555951993 |
A>G |
Likely-pathogenic |
Intron variant, non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant, 5 prime UTR variant |
|
rs1555952659 |
->GCGT |
Likely-pathogenic |
Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant |
|
rs1555952685 |
->CTT |
Pathogenic |
Non coding transcript variant, inframe indel, genic downstream transcript variant, coding sequence variant, stop gained, 5 prime UTR variant |
|
rs1555952710 |
G>C |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1555953039 |
G>A |
Pathogenic |
Genic downstream transcript variant, intron variant |
|
rs1555953149 |
G>T |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1555953158 |
A>C |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs1555953166 |
G>A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs1555953169 |
A>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1555953333 |
->GCCTC |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1555953398 |
->A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1555953420 |
A>CT |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1555953482 |
C>G |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1555953488 |
C>T |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1555953527 |
TAG>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, inframe deletion, coding sequence variant |
|
rs1555953548 |
C>T |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs1555953819 |
->C |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1555953882 |
GACA>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1555953894 |
->G |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1555954081 |
T>G |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant |
|
rs1555954105 |
C>G |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs1555954122 |
->A |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1555954154 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs1555954284 |
C>G,T |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs1555954287 |
->G |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1555954380 |
CTT>- |
Pathogenic |
Genic downstream transcript variant, non coding transcript variant, inframe deletion, coding sequence variant |
|
rs1555954414 |
G>A |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1569234653 |
C>T |
Pathogenic |
Downstream transcript variant, coding sequence variant, 5 prime UTR variant, intron variant, stop gained, non coding transcript variant, genic downstream transcript variant |
|
rs1569238002 |
C>T |
Likely-pathogenic |
Coding sequence variant, synonymous variant, non coding transcript variant, genic downstream transcript variant |
|
rs1569238251 |
AAC>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion, non coding transcript variant, genic downstream transcript variant |
|
rs1569240005 |
G>C |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant |
|
rs1569240261 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant |
|
rs1602122237 |
T>- |
Likely-pathogenic |
Downstream transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant, genic downstream transcript variant |
|
rs1602126956 |
CA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant, genic downstream transcript variant |
|
rs1602126980 |
C>G |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant, genic downstream transcript variant |
|
rs1602127262 |
->G |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant, genic downstream transcript variant |
|
rs1602129221 |
->A |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant, genic downstream transcript variant |
|
rs1602129242 |
->G |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant, genic downstream transcript variant |
|
rs1602131321 |
->TT |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1602131859 |
AG>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1602131872 |
->T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1602132216 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant |
|
rs1602134248 |
C>G |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant |
|
rs1602134459 |
G>C |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1602134468 |
->CGTGAT |
Likely-pathogenic |
Coding sequence variant, inframe insertion, non coding transcript variant, genic downstream transcript variant |
|
rs1602135698 |
A>G |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1602135779 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant |
|
rs1602136301 |
->TGCT |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs1602136369 |
->T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|