SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs132630308 |
T>A,C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs132630309 |
G>T |
Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign |
Coding sequence variant, non coding transcript variant, missense variant |
rs132630310 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs132630311 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs132630312 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs132630313 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs132630314 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs132630315 |
C>T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs132630316 |
G>C |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs132630317 |
G>A,T |
Pathogenic |
Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant |
rs132630318 |
C>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
rs132630319 |
C>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs132630320 |
C>G |
Pathogenic |
Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant |
rs132630321 |
C>T |
Pathogenic |
Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant |
rs142948132 |
G>A,C,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign |
Coding sequence variant, downstream transcript variant, missense variant, genic downstream transcript variant |
rs387907197 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs397516654 |
T>C |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant |
rs397516656 |
->G |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs397516657 |
T>A |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs397516659 |
T>C |
Pathogenic |
Non coding transcript variant, missense variant, initiator codon variant |
rs397516660 |
C>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
rs397516661 |
T>A |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
rs397516662 |
C>T |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs397516665 |
TGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCC>- |
Pathogenic |
Genic downstream transcript variant, inframe deletion, coding sequence variant |
rs397516666 |
AATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCC>- |
Pathogenic |
Genic downstream transcript variant, inframe deletion, coding sequence variant |
rs397516667 |
CCAGGACCCCCAGGACCTCCAGGACCCC>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
rs397516668 |
CAGGACCTCCAGGACCCC>-,CAGGACCTCCAGGACCCCCAGGACCTCCAGGACCCC |
Pathogenic |
Genic downstream transcript variant, inframe insertion, inframe deletion, coding sequence variant |
rs397516670 |
TCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGG>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
rs397516671 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs397516672 |
C>T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
rs397516675 |
G>A,T |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, missense variant, stop gained, coding sequence variant |
rs397516676 |
G>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
rs397516677 |
G>A |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs397516679 |
G>A |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, intron variant, coding sequence variant |
rs397516681 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, intron variant, coding sequence variant |
rs397516682 |
G>A,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, downstream transcript variant, stop gained, genic downstream transcript variant |
rs483352804 |
G>A,T |
Likely-pathogenic, not-provided |
Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant |
rs727503007 |
C>T |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
rs727503008 |
T>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
rs727503009 |
A>G,T |
Likely-pathogenic, uncertain-significance |
Genic downstream transcript variant, missense variant, intron variant, coding sequence variant |
rs727503010 |
C>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, downstream transcript variant, coding sequence variant |
rs727503011 |
C>T |
Pathogenic |
Genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant |
rs727504417 |
C>G,T |
Pathogenic |
Genic downstream transcript variant, missense variant, stop gained, coding sequence variant |
rs727504537 |
G>A |
Pathogenic |
Splice donor variant |
rs727504649 |
A>C |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs727504750 |
A>G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, missense variant, intron variant, coding sequence variant |
rs727504814 |
T>C,G |
Pathogenic |
Splice donor variant |
rs727505013 |
G>A |
Pathogenic |
Splice donor variant, genic downstream transcript variant |
rs727505089 |
->GGGT |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs749830948 |
G>A,T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs780582849 |
C>A,T |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant, synonymous variant |
rs780966428 |
G>A,T |
Pathogenic |
Genic downstream transcript variant, intron variant |
rs781394318 |
A>G |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
rs876657639 |
C>T |
Pathogenic-likely-pathogenic |
Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant |
rs876657640 |
A>T |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs876657641 |
G>A,C |
Likely-pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs876657642 |
A>C |
Likely-pathogenic |
Intron variant, missense variant, genic downstream transcript variant, coding sequence variant |
rs876657684 |
->GGGC |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs876657685 |
ACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACC>- |
Pathogenic |
Inframe deletion, genic downstream transcript variant, coding sequence variant |
rs876657686 |
CAGGTCCTCCTGGTCCTC>- |
Pathogenic, pathogenic-likely-pathogenic |
Inframe deletion, genic downstream transcript variant, coding sequence variant |
rs876657687 |
T>C,G |
Pathogenic |
Stop gained, synonymous variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant |
rs879255551 |
C>T |
Likely-pathogenic, pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs879255552 |
A>T |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs879255611 |
C>A,T |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs886039344 |
G>A |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
rs886039347 |
C>T |
Uncertain-significance, pathogenic |
Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant |
rs886039466 |
G>A |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
rs886042021 |
G>A |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs886042183 |
G>A,T |
Uncertain-significance, pathogenic |
Synonymous variant, missense variant, genic downstream transcript variant, coding sequence variant |
rs1057517731 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs1057517882 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs1057517971 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1057518211 |
A>C |
Likely-pathogenic |
Downstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant |
rs1057520742 |
C>T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs1057521131 |
G>C |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs1064793104 |
GATTCCTGGAATTCCAGG>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion, genic downstream transcript variant |
rs1064793105 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs1064793106 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant, intron variant |
rs1085307599 |
T>C |
Likely-pathogenic |
Downstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant |
rs1131691566 |
G>T |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, intron variant, stop gained |
rs1131692034 |
C>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
rs1555972067 |
CCGCCTT>AA |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs1555972071 |
->G |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs1555972137 |
G>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
rs1556098384 |
->C |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
rs1556098553 |
G>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
rs1556098570 |
C>-,CC |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
rs1556098733 |
G>C,T |
Uncertain-significance, pathogenic |
Genic downstream transcript variant, stop gained, missense variant, coding sequence variant |
rs1556098806 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs1556098978 |
ACCCCCTGGCCTCCAGG>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
rs1556110195 |
TATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGC>- |
Likely-pathogenic |
Genic downstream transcript variant, inframe deletion, downstream transcript variant, coding sequence variant |
rs1556110379 |
C>G |
Likely-pathogenic |
Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant |
rs1556110934 |
C>TCAAGATGG |
Likely-pathogenic |
Genic downstream transcript variant, downstream transcript variant, frameshift variant, coding sequence variant |
rs1569272194 |
A>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs1569272328 |
T>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1569272528 |
->A |
Pathogenic |
Intron variant |
rs1569384962 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs1569404780 |
A>T |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
rs1569404873 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs1569406514 |
->TA |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, genic downstream transcript variant |
rs1569407346 |
C>T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs1602221405 |
C>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
rs1602564282 |
A>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs1602618442 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs1602624745 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant |
rs1602625000 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |