| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs9637170 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs11702055 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs75180385 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs111451684 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs112104768 |
C>G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, synonymous variant |
|
rs112814811 |
G>A,C |
Likely-pathogenic |
Splice acceptor variant |
|
rs117583120 |
A>C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs121912934 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121912935 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121912936 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs121912937 |
C>G,T |
Pathogenic, likely-benign |
Synonymous variant, coding sequence variant, stop gained |
|
rs121912938 |
G>A |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs121912939 |
G>A,C,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs137964147 |
C>T |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs138899581 |
T>C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs138976133 |
G>A,C,T |
Benign, likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs139018148 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs139148709 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs139243418 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs139648899 |
C>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs140427635 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs140478280 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, missense variant, coding sequence variant |
|
rs140534207 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs141663473 |
A>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs142102852 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs143438559 |
G>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs143502850 |
C>A |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs143755280 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs144282452 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs144358858 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs144814689 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs144887329 |
G>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs146071423 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs148630223 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs149338158 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs149910296 |
C>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs150686304 |
G>A |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs182440627 |
C>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs184484842 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs200023632 |
C>A,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, missense variant, coding sequence variant |
|
rs200124802 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs200334019 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs267606746 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs367832752 |
G>A,C |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs369502543 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs369590506 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs369802454 |
C>A,G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs370632963 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs370780432 |
G>A,C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs371841573 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs372581026 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs372931456 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs373948031 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs376055208 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs376567898 |
G>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs377213930 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs377455608 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs398123631 |
G>A |
Pathogenic |
Splice donor variant |
|
rs398123638 |
C>G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs398123639 |
A>G |
Pathogenic |
Splice acceptor variant |
|
rs398123640 |
G>A,C |
Likely-pathogenic, uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
|
rs398123643 |
G>A |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs398123644 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs536786554 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs540554122 |
C>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant, synonymous variant |
|
rs552239546 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs573282005 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs747037863 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs749529856 |
C>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs753063150 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs756141940 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs759918870 |
ATAGGTGCGCATGGGGCCACCCGGGCAGTCCCAGATCTGC>- |
Pathogenic |
Splice donor variant, coding sequence variant, intron variant |
|
rs759989949 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, missense variant, coding sequence variant |
|
rs760768642 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, coding sequence variant |
|
rs762867111 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs764129993 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs764556767 |
G>A,C |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs767176038 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs768508076 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs770671793 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs786205555 |
A>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs794727028 |
G>A,C |
Pathogenic, pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
|
rs794727060 |
T>C |
Pathogenic |
Splice donor variant |
|
rs794727121 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797044456 |
T>C |
Pathogenic |
Splice donor variant |
|
rs797044457 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797044458 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs797045477 |
A>C,G |
Pathogenic |
Splice acceptor variant |
|
rs878854398 |
A>- |
Uncertain-significance, pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs886041383 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs886042354 |
G>A,C |
Pathogenic |
Splice acceptor variant |
|
rs886042391 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs886042646 |
GG>AA |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs886042684 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs886042748 |
G>A |
Pathogenic |
Splice donor variant |
|
rs886042856 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs886042902 |
G>A |
Pathogenic |
Splice donor variant |
|
rs886043106 |
G>A,C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs886043114 |
AAG>- |
Pathogenic |
Inframe deletion, coding sequence variant |
|
rs886043147 |
CATGCCTGGCGGCCGCGACGCACTCAAAAGCAGCG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886043291 |
GGCTCGCCCGGGTT>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs886043321 |
G>C,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs886043330 |
G>A,T |
Pathogenic |
Splice acceptor variant |
|
rs886043351 |
G>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs886043354 |
TCCGGGGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886043521 |
G>A |
Uncertain-significance, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs886043700 |
G>A,T |
Pathogenic |
Splice donor variant |
|
rs886044231 |
G>A |
Pathogenic-likely-pathogenic |
Missense variant, coding sequence variant |
|
rs886044535 |
G>A |
Pathogenic |
Splice donor variant |
|
rs890068806 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs940473416 |
A>G |
Pathogenic |
Splice acceptor variant |
|
rs1002726737 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs1057518005 |
G>A,C |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1057519174 |
A>G |
Pathogenic-likely-pathogenic |
Splice acceptor variant |
|
rs1057520625 |
G>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, synonymous variant, missense variant |
|
rs1057521152 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1057522053 |
C>A |
Likely-pathogenic |
Coding sequence variant, stop gained |
|
rs1064793840 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1064797287 |
G>A |
Likely-pathogenic |
Coding sequence variant, synonymous variant |
|
rs1249738773 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1304888945 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1322590833 |
T>G |
Pathogenic |
Splice donor variant |
|
rs1391624796 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1556423703 |
AGACTGCC>- |
Pathogenic |
Intron variant, splice acceptor variant, coding sequence variant |
|
rs1556423728 |
C>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1556425467 |
G>C,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1556425468 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1556425474 |
AGCCGGAGA>- |
Uncertain-significance, likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs1556425531 |
G>C |
Pathogenic |
Splice acceptor variant |
|
rs1556425566 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1556425596 |
C>T |
Pathogenic |
Intron variant |
|
rs1556425679 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1556425687 |
GGTGAGCG>- |
Pathogenic, likely-pathogenic |
Splice donor variant, intron variant, coding sequence variant |
|
rs1556425717 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs1556425832 |
TCCTCTTTCCAGGGGG>GGA |
Pathogenic |
Intron variant, splice acceptor variant, coding sequence variant |
|
rs1556425835 |
A>- |
Pathogenic |
Splice acceptor variant |
|
rs1556425853 |
G>- |
Pathogenic |
Splice donor variant |
|
rs1569517717 |
G>A |
Pathogenic |
Splice donor variant |
|
rs1569517943 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1569518070 |
AAC>- |
Likely-pathogenic |
Inframe indel, coding sequence variant |
|
rs1569518119 |
G>T |
Pathogenic |
Splice donor variant |
|
rs1569518138 |
A>G |
Likely-pathogenic |
Intron variant |
|
rs1569518481 |
T>G |
Likely-pathogenic |
Splice donor variant |
|
rs1569518677 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1569518725 |
AG>- |
Likely-pathogenic |
Splice acceptor variant |
|
rs1569518771 |
GG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1569519030 |
G>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1569519109 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1603590637 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1603590641 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1603590649 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1603593491 |
->ACCG |
Likely-pathogenic |
Frameshift variant, coding sequence variant |