| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs607969 |
C>G,T |
Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs28931612 |
C>A,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs77461664 |
G>A,C,T |
Uncertain-significance, benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs104894256 |
A>C |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs104894257 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, intron variant |
|
rs104894258 |
C>T |
Pathogenic |
Stop gained, coding sequence variant, intron variant |
|
rs104894262 |
A>T |
Pathogenic |
Splice donor variant, coding sequence variant, missense variant |
|
rs104894263 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs104894265 |
G>A,T |
Pathogenic, likely-benign |
Stop gained, coding sequence variant, synonymous variant |
|
rs104894266 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs104894268 |
C>G,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
|
rs121913034 |
T>A,G |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs143329068 |
G>A,C |
Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs267607234 |
CC>TT |
Pathogenic |
Coding sequence variant, missense variant |
|
rs371192390 |
C>A |
Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign |
Synonymous variant, coding sequence variant |
|
rs374749001 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant |
|
rs376872829 |
C>A,G,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs386134245 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs386134246 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs386134247 |
C>-,CC |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs386134250 |
T>A,C,G |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Missense variant, initiator codon variant |
|
rs386134251 |
GG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs386134253 |
->A,AA |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs386134254 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs386134255 |
->AATT |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs386134256 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs386134258 |
CCCGCTCA>- |
Likely-pathogenic |
Coding sequence variant, splice donor variant, intron variant |
|
rs386134259 |
G>A,C,T |
Uncertain-significance, likely-pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs386134260 |
G>C |
Pathogenic, not-provided |
Stop gained, coding sequence variant |
|
rs386134261 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs397515385 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs398124437 |
C>G,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs587776841 |
ACAG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs730882136 |
->GGGGC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs747851909 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs750904332 |
G>A,C,T |
Pathogenic |
Stop gained, synonymous variant, coding sequence variant |
|
rs767078097 |
G>A,C |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
|
rs772588551 |
C>A,T |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs778670301 |
C>G,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant, synonymous variant |
|
rs778921501 |
G>A,T |
Pathogenic |
Stop gained, coding sequence variant, synonymous variant |
|
rs786204242 |
C>T |
Pathogenic-likely-pathogenic |
Missense variant, initiator codon variant |
|
rs794728614 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs794728615 |
G>A,C |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs794728616 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs794728618 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs794728622 |
C>A,T |
Pathogenic |
Splice donor variant, intron variant |
|
rs794728624 |
C>T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs794728625 |
C>T |
Pathogenic |
Intron variant |
|
rs794728627 |
G>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs794728636 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs794728637 |
CCAGCTCGGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs794728638 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs794728639 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs794728640 |
TCTG>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
|
rs794728641 |
AGATGTGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs794728647 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, missense variant, coding sequence variant |
|
rs794728648 |
C>A,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs794728650 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs794728652 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs794728655 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs794728656 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs794728657 |
TTC>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs794728658 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs869025185 |
CCT>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs869312167 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs878855191 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs878855192 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs878855196 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant |
|
rs886039413 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886039414 |
C>A,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant, stop gained |
|
rs886039415 |
A>G |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs886039416 |
G>A,C |
Pathogenic, uncertain-significance |
Stop gained, missense variant, coding sequence variant |
|
rs886039553 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886041213 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886041634 |
GC>A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886042035 |
T>C,G |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
|
rs1057517760 |
->TGC |
Likely-pathogenic |
Inframe insertion, coding sequence variant |
|
rs1057517902 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057518572 |
C>T |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
|
rs1057518903 |
C>- |
Pathogenic |
Intron variant, coding sequence variant, splice donor variant |
|
rs1057520733 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1057521110 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1057524571 |
A>C |
Likely-pathogenic |
Splice donor variant |
|
rs1060499971 |
CTC>- |
Conflicting-interpretations-of-pathogenicity |
Inframe deletion, coding sequence variant |
|
rs1060499973 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1060499976 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs1060499984 |
G>A,C |
Pathogenic, uncertain-significance |
Missense variant, stop gained, coding sequence variant |
|
rs1060499987 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1060499990 |
G>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1060499992 |
C>A,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs1060503789 |
G>A,T |
Likely-benign, pathogenic |
Stop gained, coding sequence variant, synonymous variant |
|
rs1064792906 |
TGAAGCGGGCATAGAGGGCGG>- |
Uncertain-significance, likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs1064793167 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064793169 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064793398 |
C>T |
Likely-pathogenic |
Intron variant |
|
rs1064793613 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1064793672 |
C>G,T |
Pathogenic |
Splice acceptor variant |
|
rs1064795635 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1085307471 |
C>G,T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1085307971 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1114167469 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1114167470 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167471 |
A>C,G |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1114167472 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1114167473 |
C>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1114167474 |
C>T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1114167478 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167480 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1114167481 |
GAAG>AAT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167482 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1114167483 |
->CGCAC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167485 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167486 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167488 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1114167489 |
C>G,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs1114167490 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167491 |
C>T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1114167492 |
C>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1114167493 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1114167494 |
C>A |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1114167495 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1114167498 |
T>C |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
|
rs1114167499 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1114167502 |
A>G |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1114167503 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167505 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1114167506 |
C>AA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167508 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167511 |
GA>TT |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1114167515 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1114167516 |
GGGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167519 |
->CATG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167523 |
CG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167527 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1114167532 |
GTTGATGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167534 |
->CACC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167538 |
G>- |
Pathogenic |
Intron variant, coding sequence variant, frameshift variant |
|
rs1114167540 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167541 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1114167543 |
A>C |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1187634059 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1555164707 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1555164946 |
A>G |
Likely-pathogenic |
Splice donor variant |
|
rs1555164986 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555165008 |
CCCGCACATTGCGGTTGCGACAGTGG>- |
Likely-pathogenic |
Coding sequence variant, inframe indel, stop gained |
|
rs1555165128 |
A>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1555165256 |
A>G |
Pathogenic |
Splice donor variant |
|
rs1555165360 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555165377 |
C>G |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
|
rs1555165488 |
->AGCTCCA |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555165503 |
TCAATGG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555165565 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555165570 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1555165597 |
G>C,T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1555165756 |
GG>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant |
|
rs1555166365 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1555166368 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555166387 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555166435 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555166466 |
TA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555166494 |
->CGGTG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555166508 |
ATGATAGACAGGTCG>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
|
rs1555166567 |
G>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1555166609 |
->GCTGG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555166681 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555166695 |
AGGAAAGGAGCACCA>-,AGGAAAGGAGCACCAAGGAAAGGAGCACCA |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, inframe deletion, inframe insertion |
|
rs1555166711 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1565642765 |
T>A,C |
Pathogenic |
Splice acceptor variant |
|
rs1565644366 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1565645563 |
G>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1565646772 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1565647197 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1565647767 |
G>A |
Pathogenic |
Coding sequence variant, intron variant, stop gained |
|
rs1565648511 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1565648656 |
C>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1565651223 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1565651568 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1565652689 |
C>A,G |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1592640081 |
->GC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1592640181 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1592640213 |
GCAGGTTGGGGATGACATCATTGGCTACTTCA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1592643178 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1592646211 |
C>T |
Likely-pathogenic, uncertain-significance |
Synonymous variant, coding sequence variant |
|
rs1592646226 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1592646831 |
GTACC>AACCTCTAGGTA |
Pathogenic |
Coding sequence variant, splice acceptor variant |
|
rs1592647398 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1592648765 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1592648830 |
->TGCA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1592649069 |
AC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1592649108 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1592649598 |
AGCTCTTAGGGGGGGATGA>- |
Likely-pathogenic |
Intron variant, coding sequence variant, splice acceptor variant |
|
rs1592649615 |
C>G,T |
Pathogenic |
Splice acceptor variant |
|
rs1592650986 |
T>- |
Pathogenic |
Intron variant, frameshift variant, coding sequence variant |
|
rs1592651767 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1592657785 |
GGGCCCGATC>AGGGA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1592658517 |
->GGGA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1592659414 |
GC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1592660057 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1592660101 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1592660983 |
->GC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1592661082 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |