| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs1800338 |
T>C |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs9282684 |
T>C,G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic downstream transcript variant, intron variant |
|
rs17233141 |
G>C |
Pathogenic, benign-likely-benign, likely-benign |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs34885858 |
C>A,G |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs121907930 |
C>T |
Pathogenic |
Intron variant, coding sequence variant, stop gained |
|
rs139235751 |
C>G,T |
Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs140180549 |
C>A,T |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs141422170 |
G>C |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs142833057 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs147945881 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs148100796 |
C>A |
Not-provided, pathogenic |
Coding sequence variant, stop gained |
|
rs148473140 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs149277003 |
T>C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs149551759 |
G>A,C |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant, genic downstream transcript variant |
|
rs149797103 |
G>A |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, synonymous variant |
|
rs183350210 |
T>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs368953287 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, coding sequence variant, synonymous variant |
|
rs372163487 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs372254398 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs397507552 |
CAAC>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs539460201 |
T>A,G |
Pathogenic |
Intron variant, missense variant, stop gained, coding sequence variant |
|
rs555449842 |
C>T |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs574034197 |
T>C,G |
Likely-pathogenic, pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs577636020 |
AG>- |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
|
rs587776570 |
A>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs587783028 |
C>A,T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs745568821 |
G>C |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs746518509 |
T>A,C |
Likely-pathogenic |
Splice acceptor variant |
|
rs747851434 |
->C |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs751076878 |
C>A,G,T |
Likely-pathogenic |
Splice acceptor variant |
|
rs751266148 |
C>A,T |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs752160950 |
G>A,C |
Pathogenic-likely-pathogenic, pathogenic |
Stop gained, missense variant, genic downstream transcript variant, coding sequence variant |
|
rs752864343 |
C>A,T |
Pathogenic |
Missense variant, stop gained, genic downstream transcript variant, coding sequence variant |
|
rs753063086 |
G>A,T |
Likely-pathogenic, pathogenic |
Missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs753211631 |
C>G,T |
Likely-pathogenic |
Splice donor variant |
|
rs753728435 |
C>A,G,T |
Likely-pathogenic |
Splice acceptor variant |
|
rs753980264 |
G>A,C |
Pathogenic |
Stop gained, missense variant, genic downstream transcript variant, coding sequence variant |
|
rs754104046 |
->GCTGCTG |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs755104393 |
C>G |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs755546887 |
G>A,T |
Uncertain-significance, likely-pathogenic, pathogenic |
Missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant |
|
rs755922289 |
C>A,T |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs756140957 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs756367276 |
->A |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs757504102 |
ACGTAG>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained, inframe indel |
|
rs758528624 |
C>A,T |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs759877008 |
C>A,T |
Pathogenic, likely-pathogenic |
Intron variant |
|
rs759899153 |
CT>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs761341952 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, stop gained |
|
rs761725308 |
G>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs762526878 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs763378933 |
AGAG>-,AG |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs764122657 |
GT>- |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs765277254 |
C>A,G |
Likely-pathogenic |
Splice acceptor variant |
|
rs766875860 |
A>C,T |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs766989857 |
->C |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, splice donor variant |
|
rs769479800 |
A>G,T |
Pathogenic, likely-pathogenic |
Missense variant, initiator codon variant |
|
rs769580546 |
CT>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs769862233 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs772359099 |
GAGT>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs772751654 |
T>A,C,G |
Pathogenic, likely-pathogenic |
Missense variant, initiator codon variant |
|
rs772858764 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs773159223 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs773906241 |
T>C |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs774026652 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs775388912 |
C>A,G,T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs777825824 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, genic downstream transcript variant, missense variant |
|
rs778507965 |
C>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs779375100 |
->G |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs780825099 |
T>G |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs786204204 |
T>G |
Pathogenic |
Intron variant |
|
rs786204238 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs786204246 |
AAG>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, inframe deletion |
|
rs794726660 |
GTTTT>- |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs797045570 |
ACTTA>- |
Likely-pathogenic |
Splice donor variant, intron variant |
|
rs864622187 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs864622188 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs868273545 |
TC>-,TCTC |
Pathogenic, likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs878853660 |
CA>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs878853663 |
AG>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs879255255 |
T>A |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs891323617 |
C>A,T |
Likely-pathogenic |
Splice donor variant |
|
rs927630499 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs937874201 |
A>G |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs947311062 |
T>G |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs976556567 |
T>C |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs1057516430 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1057521855 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs1060501876 |
G>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1060501878 |
T>A |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1060501879 |
C>A,T |
Uncertain-significance, pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs1060501880 |
G>A,T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant |
|
rs1166286386 |
C>T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs1173704265 |
A>G |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs1183559927 |
G>C,T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1184639006 |
G>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs1186669727 |
GT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1188581065 |
C>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1205909298 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1216426444 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs1230207719 |
C>A,G |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1232171121 |
C>A,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs1247378731 |
G>A,C,T |
Pathogenic-likely-pathogenic, likely-benign |
Synonymous variant, coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1278836130 |
T>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1283284704 |
->TCAGGTTGAATTTCCAGCT |
Pathogenic |
Coding sequence variant, inframe indel, genic downstream transcript variant, stop gained |
|
rs1285346388 |
CTAGAACAGCAAACACTGC>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, intron variant, splice acceptor variant |
|
rs1291524243 |
G>A,C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant, stop gained |
|
rs1302083447 |
T>G |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, missense variant |
|
rs1313006784 |
G>A,C |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant, missense variant |
|
rs1336033143 |
GTCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1338138752 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1343140664 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
|
rs1348367722 |
->GACT |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1353992080 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1365019056 |
C>A |
Likely-pathogenic |
Intron variant, splice donor variant |
|
rs1374769712 |
->A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1380850249 |
CTT>- |
Likely-pathogenic, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, inframe deletion |
|
rs1381684916 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1388128874 |
C>A,G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1438828232 |
G>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1439817346 |
G>A,C |
Likely-pathogenic, uncertain-significance |
Genic downstream transcript variant, coding sequence variant, stop gained, missense variant |
|
rs1447363475 |
A>C |
Uncertain-significance, likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs1448463647 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
|
rs1452688134 |
A>G,T |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained |
|
rs1458001028 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
|
rs1464032361 |
C>A,T |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1477653630 |
C>A,G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1483028018 |
C>G,T |
Likely-pathogenic |
Splice donor variant |
|
rs1484087361 |
G>A,T |
Likely-pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs1485075318 |
C>A,T |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1490352414 |
A>G |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs1555535472 |
G>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555535527 |
A>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555536361 |
GGCC>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555536446 |
CAC>- |
Pathogenic |
Inframe deletion, genic downstream transcript variant, coding sequence variant |
|
rs1555537347 |
->G |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555538571 |
C>T |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs1555538740 |
C>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555540048 |
AACT>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555540076 |
C>G |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1555542860 |
C>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555545421 |
CTCTTTC>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555545517 |
G>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555545553 |
TG>- |
Likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555545592 |
T>A |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1555547474 |
C>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555547935 |
AGAAAGAC>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555547955 |
->C |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555548428 |
C>T |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555548512 |
G>A |
Pathogenic, likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1555548632 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1555549451 |
C>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555549535 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1555552006 |
->CGGGA |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555552506 |
C>A |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555554788 |
TG>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555556175 |
C>T |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555561294 |
C>G |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555564436 |
C>A |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1555564451 |
GGCTGTG>- |
Likely-pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs1555571116 |
A>G |
Not-provided, likely-pathogenic |
Splice donor variant |
|
rs1555573118 |
A>G |
Likely-pathogenic |
Splice donor variant |
|
rs1555574913 |
->C |
Likely-pathogenic |
Frameshift variant, intron variant, coding sequence variant |
|
rs1555575253 |
->G |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555580427 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1555581729 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, initiator codon variant |
|
rs1567601557 |
C>G |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1567603987 |
T>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1567616135 |
->CC |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1567618264 |
T>C |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1567618907 |
CAG>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant, genic downstream transcript variant |
|
rs1567621042 |
A>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1567628967 |
TGAGGTCGGCCAGCCGTGTCTTGGCCAATGAGATGTAGTCTGTGAGGAGGGAGCGGTACTTGCCGGGAACCAGGGGTGGGTGGAGAATGTGCACCT>- |
Pathogenic |
Splice donor variant, genic downstream transcript variant, coding sequence variant, splice acceptor variant |
|
rs1567635573 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1567642367 |
C>T |
Pathogenic |
Splice acceptor variant |
|
rs1598067532 |
C>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, stop gained |
|
rs1598116164 |
C>G |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1598120768 |
C>A |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
|
rs1598127082 |
->C |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1598129626 |
->G |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant |
|
rs1598184500 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1598190568 |
A>C |
Likely-pathogenic |
Splice donor variant |
|
rs1598191053 |
GC>AA |
Pathogenic |
Coding sequence variant, stop gained |