| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs35441529 |
->C |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs201653711 |
G>T |
Likely-pathogenic, pathogenic |
Genic upstream transcript variant, coding sequence variant, non coding transcript variant, intron variant, stop gained |
|
rs377021700 |
C>G,T |
Uncertain-significance, pathogenic |
Synonymous variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs387907140 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs387907141 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs387907142 |
C>T |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs387907143 |
A>C,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs387907144 |
C>A,T |
Pathogenic |
Synonymous variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs587779745 |
C>T |
Pathogenic |
Intron variant, stop gained, coding sequence variant |
|
rs587779746 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs748363079 |
T>A,C |
Pathogenic |
Intron variant, stop gained, coding sequence variant, synonymous variant |
|
rs750447037 |
C>A,T |
Pathogenic-likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, missense variant |
|
rs751192841 |
C>A,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
|
rs753933273 |
C>A,T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant, genic upstream transcript variant |
|
rs754167205 |
C>A,T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant |
|
rs758120346 |
C>A,T |
Likely-pathogenic |
Missense variant, stop gained, coding sequence variant, non coding transcript variant |
|
rs758570139 |
C>G,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant, non coding transcript variant |
|
rs772973856 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant, non coding transcript variant |
|
rs773740590 |
C>A,T |
Pathogenic |
Non coding transcript variant, stop gained, synonymous variant, coding sequence variant |
|
rs779375711 |
G>A,T |
Pathogenic |
Non coding transcript variant, stop gained, missense variant, coding sequence variant |
|
rs786205584 |
G>A,T |
Likely-pathogenic |
Non coding transcript variant, stop gained, missense variant, coding sequence variant |
|
rs794727977 |
C>T |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
|
rs797044859 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs797045272 |
C>T |
Pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant |
|
rs797045277 |
G>A |
Pathogenic-likely-pathogenic, pathogenic, uncertain-significance |
Synonymous variant, coding sequence variant, intron variant |
|
rs797045278 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs797045279 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs797045280 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs797045281 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs797045282 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs797045283 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs864309615 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs869312697 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs869312712 |
C>T |
Pathogenic |
5 prime UTR variant, stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant |
|
rs876657379 |
AGCATTGGAAA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs876657380 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs876657381 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs876657382 |
AGACGCCACC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs879253745 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs879253746 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs879253747 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs879253856 |
CCG>TCCGCAGCCACTCC |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant |
|
rs886039594 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs886039676 |
C>G |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs886039679 |
G>A |
Pathogenic |
Splice donor variant |
|
rs886039699 |
G>A |
Pathogenic |
Splice donor variant |
|
rs886040958 |
CC>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs886041463 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs886041470 |
GG>T |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant, genic upstream transcript variant, non coding transcript variant |
|
rs886041493 |
AA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs886041623 |
A>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs886041632 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs886041665 |
CACGGAAAGCA>GACTTG |
Pathogenic |
Stop gained, coding sequence variant, inframe indel, non coding transcript variant |
|
rs886041706 |
AAGA>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs886041804 |
AAAACCGCTCGGAATTCCTTTTG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
|
rs886041819 |
G>A |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs886041878 |
->T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
|
rs886044620 |
G>A |
Pathogenic |
Intron variant, splice acceptor variant |
|
rs1028186690 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, stop gained |
|
rs1057517704 |
C>G,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, intron variant, stop gained |
|
rs1057518045 |
G>A |
Likely-pathogenic |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant |
|
rs1057518059 |
G>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1057518318 |
T>C |
Likely-pathogenic |
Intron variant, coding sequence variant, splice donor variant, missense variant |
|
rs1057518387 |
->AGCTC |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057518691 |
G>C |
Pathogenic |
Splice donor variant |
|
rs1057518918 |
C>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057518951 |
C>T |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs1057518984 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs1057519002 |
T>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057519009 |
->AA |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1057521854 |
T>C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1060499668 |
C>T |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained |
|
rs1064793482 |
C>T |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs1064793899 |
GGTCACGATGG>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1064794799 |
G>A,T |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant, missense variant |
|
rs1085307518 |
GC>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1085307695 |
GAAA>- |
Pathogenic |
Upstream transcript variant, frameshift variant, intron variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs1131691508 |
TCGGC>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1131692263 |
CAAAG>- |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1289067120 |
->C |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1308155037 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant, stop gained |
|
rs1404726383 |
T>C,G |
Pathogenic |
Splice donor variant |
|
rs1451259945 |
G>A,T |
Likely-pathogenic |
Non coding transcript variant, stop gained, missense variant, coding sequence variant |
|
rs1554226097 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, intron variant |
|
rs1554226131 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
|
rs1554228806 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554229912 |
->GA |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554231259 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1554231260 |
CT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554231803 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554231814 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554231830 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554231836 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554231845 |
T>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554231904 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554232919 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554232959 |
->A |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554233122 |
TAC>AG |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554233151 |
T>CATGAGCCCA |
Likely-pathogenic |
Inframe indel, coding sequence variant, non coding transcript variant |
|
rs1554233166 |
->C |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554233187 |
G>A |
Pathogenic |
Splice donor variant |
|
rs1554234341 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554234424 |
T>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554235028 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs1554235041 |
G>C |
Pathogenic |
Splice donor variant, intron variant |
|
rs1554235699 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554235792 |
C>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554235834 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554235934 |
TG>AGT |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554235950 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554236040 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554236045 |
TACCTCCAAAGAT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554236054 |
->G |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554236600 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554237050 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554237269 |
TGTT>- |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554237473 |
->G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554237606 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554237658 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554237785 |
AA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1554237845 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554237848 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554237992 |
->CCCTCTGTAAACTCAGTATCCAGGACAA |
Pathogenic |
Inframe insertion, coding sequence variant, non coding transcript variant, stop gained |
|
rs1554238072 |
C>A,T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, synonymous variant |
|
rs1554238093 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1554256703 |
C>T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained |
|
rs1554265271 |
C>T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained |
|
rs1554265275 |
->A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained |
|
rs1554265316 |
C>T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained |
|
rs1554265319 |
->G |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant |
|
rs1554270809 |
C>T |
Pathogenic, likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained |
|
rs1554294593 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained |
|
rs1554294665 |
->CC |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant |
|
rs1554294674 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant |
|
rs1554294698 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant |
|
rs1554298232 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
|
rs1554301230 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant, upstream transcript variant, non coding transcript variant, genic upstream transcript variant, intron variant |
|
rs1562328476 |
TCTGG>CAGA |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1562328526 |
C>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1562331655 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1562345819 |
C>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1562347066 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1562350940 |
A>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1562352435 |
->A |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1562354784 |
A>- |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1562355401 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1582908829 |
A>- |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583279842 |
T>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs1583280025 |
TGCGTCCCCTCATCTCTCCA>- |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs1583280152 |
C>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs1583368813 |
->C |
Pathogenic |
Intron variant, frameshift variant, upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs1583438967 |
CGGCAGGTAACCT>- |
Pathogenic |
Intron variant, coding sequence variant, splice donor variant, non coding transcript variant |
|
rs1583451146 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583451360 |
G>A |
Pathogenic |
Synonymous variant, coding sequence variant, non coding transcript variant |
|
rs1583464090 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583469151 |
TAAA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583469292 |
C>G |
Likely-pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1583479670 |
GC>A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583479817 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583480465 |
ATCA>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583491381 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583491515 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
|
rs1583500173 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583502875 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583513256 |
AAAG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583513716 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583515345 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1583515557 |
CCGAG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583516082 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1583516200 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
|
rs1583518354 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |