| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs71957589 |
GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGT |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
3 prime UTR variant |
| rs80227512 |
G>A |
Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs80338919 |
CTCCGAGCAGC>TTACTGG |
Pathogenic, uncertain-significance |
Frameshift variant, coding sequence variant |
| rs80338920 |
T>C |
Pathogenic, uncertain-significance |
Splice acceptor variant |
| rs80338921 |
C>T |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained |
| rs80338922 |
C>T |
Pathogenic, uncertain-significance |
Splice acceptor variant |
| rs80338923 |
C>T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs80338924 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80338925 |
C>T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs80338926 |
G>A,T |
Likely-pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant |
| rs80338927 |
A>G |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs80338928 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80338929 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80338930 |
T>A,C |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs80338931 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs80338932 |
A>C |
Pathogenic |
Coding sequence variant, stop gained |
| rs80338933 |
G>A |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, stop gained |
| rs80338934 |
G>A |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, stop gained |
| rs80338935 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant |
| rs80338936 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80338937 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs80359890 |
A>G |
Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs139192433 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
| rs143032801 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, missense variant |
| rs144764160 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs144873879 |
C>G,T |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Synonymous variant, coding sequence variant |
| rs146920285 |
T>A |
Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance |
Coding sequence variant, missense variant |
| rs147013935 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, synonymous variant |
| rs148634904 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance |
Coding sequence variant, missense variant |
| rs200665714 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
| rs200728983 |
C>A,G,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs201779392 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
| rs370115218 |
G>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
| rs370613184 |
G>A |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
| rs749850181 |
C>A |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained |
| rs749963147 |
->GGCC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs750529207 |
G>A |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
| rs753287764 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs759785462 |
G>A |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
| rs761972717 |
C>T |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained |
| rs769410348 |
C>T |
Likely-pathogenic, uncertain-significance |
Splice donor variant |
| rs772823083 |
C>T |
Pathogenic, uncertain-significance |
Intron variant |
| rs773554464 |
A>G |
Likely-pathogenic |
Splice donor variant |
| rs774401267 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs775740308 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs776221160 |
C>T |
Pathogenic, uncertain-significance |
Coding sequence variant, synonymous variant |
| rs863224454 |
AC>CT |
Pathogenic |
Coding sequence variant, missense variant |
| rs863224520 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs863224780 |
GC>AA |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
| rs864622663 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs864622664 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs878855092 |
TGTTGCTGGACAGAGGCCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879253859 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs879254316 |
C>T |
Likely-pathogenic |
Intron variant |
| rs879254317 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs1064793267 |
C>G,T |
Likely-pathogenic |
Intron variant |
| rs1064795016 |
AAT>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
| rs1064797314 |
C>- |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, frameshift variant |
| rs1174949678 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1198337036 |
C>T |
Likely-pathogenic |
Splice donor variant |
| rs1222150652 |
TCATAGCCTTC>- |
Uncertain-significance, pathogenic |
Frameshift variant, coding sequence variant |
| rs1308058909 |
C>A,G |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
| rs1554120215 |
->A |
Pathogenic |
Splice donor variant |
| rs1554120331 |
C>A |
Likely-pathogenic |
Splice acceptor variant |
| rs1554121665 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs1554121691 |
CC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1554121777 |
C>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
| rs1554122541 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1554122560 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
| rs1554122847 |
C>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained |
| rs1554122973 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1561764569 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs1561764735 |
A>C |
Pathogenic |
Stop gained, coding sequence variant |
| rs1561764925 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
| rs1561765311 |
AAAC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs1561770179 |
T>- |
Pathogenic, uncertain-significance |
Frameshift variant, coding sequence variant |
| rs1561770798 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
| rs1580889913 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1580891465 |
T>G |
Likely-pathogenic |
Splice acceptor variant |
| rs1580900150 |
G>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
| rs1580900473 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1580900970 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
| rs1580901350 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
| rs1580901363 |
G>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs1580907885 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1580917130 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |