| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs28940290 |
G>A |
Pathogenic |
Missense variant, downstream transcript variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant |
|
rs28941475 |
G>A |
Likely-pathogenic, pathogenic, uncertain-significance |
Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs29001584 |
A>G |
Pathogenic, uncertain-significance |
Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs29001665 |
G>A |
Pathogenic |
Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant |
|
rs113831637 |
G>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Non coding transcript variant, genic upstream transcript variant, coding sequence variant, upstream transcript variant, missense variant |
|
rs116205032 |
T>C |
Pathogenic, benign |
Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant |
|
rs116333061 |
G>T |
Pathogenic, benign |
Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant |
|
rs121434376 |
G>A |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, upstream transcript variant |
|
rs121434377 |
G>A |
Pathogenic |
Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, upstream transcript variant |
|
rs121434378 |
C>T |
Pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs121434379 |
A>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs121434380 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs121434381 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained |
|
rs144607919 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant |
|
rs145097270 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Genic upstream transcript variant, missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant |
|
rs145438764 |
A>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
|
rs148078248 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Genic upstream transcript variant, upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant |
|
rs149718424 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
|
rs150532677 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant |
|
rs151117904 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant |
|
rs199707503 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
|
rs200154603 |
C>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs267607044 |
G>A |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant |
|
rs374656811 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs534723946 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, synonymous variant |
|
rs572772837 |
TCATCA>-,TCA,TCATCATCA,TCATCATCATCA |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Upstream transcript variant, inframe deletion, non coding transcript variant, genic upstream transcript variant, coding sequence variant, inframe insertion |
|
rs587776536 |
CCTTT>- |
Pathogenic |
Upstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs587776537 |
AGA>- |
Likely-pathogenic, pathogenic |
Inframe deletion, non coding transcript variant, coding sequence variant, genic upstream transcript variant |
|
rs730882209 |
->C |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs750959420 |
CTCT>-,CT |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant |
|
rs752122764 |
GT>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant |
|
rs759213174 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, intron variant |
|
rs762175796 |
A>G |
Pathogenic |
Intron variant, coding sequence variant, missense variant |
|
rs762818441 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant |
|
rs765371601 |
CA>- |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant |
|
rs770684782 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs773379832 |
A>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs776470487 |
TT>- |
Pathogenic-likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs776632212 |
G>- |
Pathogenic |
Coding sequence variant, intron variant, frameshift variant |
|
rs797045067 |
ATTGCTTTCT>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs797045068 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs863224918 |
CAA>AT |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant |
|
rs863224919 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
|
rs879253866 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs886041522 |
G>A |
Pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, stop gained |
|
rs901109960 |
G>A,C |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained, missense variant |
|
rs997473183 |
C>D,T |
Pathogenic |
Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant |
|
rs1057519213 |
->A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant |
|
rs1057520367 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant |
|
rs1331217337 |
->C |
Likely-pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
|
rs1362178149 |
TGTCTTT>- |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs1455336434 |
A>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant |
|
rs1473613373 |
A>C,G |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1554801819 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs1554806979 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, downstream transcript variant, splice donor variant |
|
rs1554807765 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs1554813128 |
TGAC>- |
Pathogenic |
Splice donor variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, initiator codon variant |
|
rs1554820931 |
->T |
Pathogenic |
Non coding transcript variant, upstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant |
|
rs1554822175 |
A>- |
Pathogenic |
Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1564482221 |
T>A |
Pathogenic |
Downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
|
rs1564492117 |
CT>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
|
rs1589734405 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained, intron variant |
|
rs1589757407 |
C>T |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant |