| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs77440690 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign |
Intron variant, genic upstream transcript variant |
|
rs104894010 |
A>G |
Pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs104894012 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs104894014 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs104894016 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs193921338 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs193921340 |
A>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs193922259 |
T>A |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained |
|
rs193922261 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs193922262 |
C>A,G |
Likely-pathogenic |
Stop gained, missense variant, coding sequence variant, 5 prime UTR variant |
|
rs193922263 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs193922264 |
C>T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs193922265 |
G>A,C,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs193922266 |
A>C,T |
Likely-pathogenic, uncertain-significance |
Initiator codon variant, coding sequence variant, missense variant |
|
rs193922267 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs193922268 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs193922269 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs193922271 |
G>C,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs193922272 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs193922273 |
A>G,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs193922274 |
GAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCAC>TGTAA |
Likely-pathogenic |
Coding sequence variant, inframe indel |
|
rs193922275 |
GC>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs193922277 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs193922278 |
A>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs193922279 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs193922280 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs193922281 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs193922282 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs193922283 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs193922284 |
TT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs193922286 |
G>T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs193922287 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs193922289 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs193922290 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs193922291 |
T>A |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained |
|
rs193922292 |
A>C,G |
Likely-pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs193922295 |
G>- |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs193922296 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs193922297 |
A>G,T |
Likely-pathogenic, pathogenic, uncertain-significance |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs193922301 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs193922302 |
C>T |
Likely-pathogenic |
Synonymous variant, coding sequence variant, genic upstream transcript variant |
|
rs193922308 |
G>C,T |
Likely-pathogenic |
Synonymous variant, missense variant, coding sequence variant, genic upstream transcript variant |
|
rs193922325 |
A>C,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs193922329 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained |
|
rs193929374 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant |
|
rs193929375 |
C>A |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs267601516 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant |
|
rs556581174 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, stop gained, 5 prime UTR variant, synonymous variant |
|
rs587780343 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs753795627 |
A>C,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs758737171 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs759072800 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs762263694 |
G>A |
Pathogenic, pathogenic-likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs764232985 |
C>G,T |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs777870079 |
G>A,T |
Likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs780612692 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant, synonymous variant |
|
rs781260712 |
C>A |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs794727236 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs797045595 |
GGATGGAGTACATCTGG>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs876661320 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs878853246 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic upstream transcript variant |
|
rs886041690 |
->G |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs886042015 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057520109 |
C>A,T |
Pathogenic, likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1057521092 |
C>T |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs1057521094 |
C>T |
Pathogenic-likely-pathogenic |
Genic upstream transcript variant, splice acceptor variant |
|
rs1057524900 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057524901 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057524902 |
A>C,T |
Pathogenic |
Splice donor variant |
|
rs1057524906 |
A>G |
Uncertain-significance, likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1064793134 |
C>T |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs1064793428 |
->GG |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1064793998 |
C>T |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1064794268 |
T>G |
Uncertain-significance, likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1064795242 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064796410 |
A>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1131691416 |
C>G,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1131691483 |
C>A |
Likely-pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant |
|
rs1131691505 |
CAGCGCGCG>- |
Uncertain-significance, likely-pathogenic |
Inframe deletion, 5 prime UTR variant, coding sequence variant |
|
rs1281712444 |
G>A |
Pathogenic |
Genic upstream transcript variant, stop gained, coding sequence variant |
|
rs1286804191 |
G>A |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1350717554 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1400535021 |
C>-,CC |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1444739794 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant, genic upstream transcript variant |
|
rs1486280029 |
G>A,T |
Pathogenic, likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1554334433 |
->CCG |
Pathogenic |
Coding sequence variant, inframe insertion |
|
rs1554334579 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1554334610 |
AGCACATGTGCGCAGCG>- |
Pathogenic |
Initiator codon variant, 5 prime UTR variant, coding sequence variant, frameshift variant |
|
rs1554335564 |
A>G |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs1554335566 |
C>T |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1554335570 |
C>T |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1554335585 |
C>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1554335612 |
T>A |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1554335616 |
G>C,T |
Likely-pathogenic, uncertain-significance |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1554335751 |
A>G |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1554335752 |
A>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1554335761 |
C>T |
Likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1554335913 |
C>T |
Pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs1554335954 |
A>C,G,T |
Pathogenic, likely-pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1554335966 |
T>C |
Pathogenic |
Splice acceptor variant, genic upstream transcript variant |
|
rs1562711915 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1562719029 |
C>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs1562719705 |
G>A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, missense variant |
|
rs1583590393 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1583591809 |
G>T |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1583601110 |
CCACCCGGCCCACCT>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, intron variant, splice donor variant |
|
rs1583601365 |
G>T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained |