| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs61736892 |
G>A |
Conflicting-interpretations-of-pathogenicity, benign |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs104894853 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs104894856 |
G>C,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs104894860 |
G>A,T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, synonymous variant |
|
rs104894861 |
T>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs104894862 |
C>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs104894863 |
C>G |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs113993945 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs113993946 |
C>A,G,T |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs113993947 |
C>G,T |
Pathogenic |
Splice acceptor variant |
|
rs113993948 |
G>A |
Pathogenic |
Coding sequence variant, synonymous variant, genic downstream transcript variant, downstream transcript variant |
|
rs113993949 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, missense variant |
|
rs113993951 |
T>A |
Pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs113993952 |
T>A |
Pathogenic |
Intron variant |
|
rs113993953 |
T>A,C |
Pathogenic, benign |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs113993955 |
A>G |
Pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant |
|
rs138918423 |
C>T |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant |
|
rs144081417 |
T>A,C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant |
|
rs146458524 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, benign |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs146846763 |
A>C |
Conflicting-interpretations-of-pathogenicity |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs147108245 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, non coding transcript variant, coding sequence variant |
|
rs193302904 |
C>T |
Pathogenic-likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs193302906 |
A>T |
Pathogenic |
Downstream transcript variant, missense variant, coding sequence variant, genic downstream transcript variant |
|
rs193302907 |
C>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
|
rs193302908 |
G>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs193302910 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs193302911 |
G>C,T |
Likely-pathogenic, pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs193302912 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
rs193302913 |
AG>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
|
rs199422227 |
G>A,T |
Pathogenic |
Synonymous variant, coding sequence variant, stop gained, genic downstream transcript variant |
|
rs199422228 |
C>G |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs199422229 |
A>C,G |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs199422230 |
C>T |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs199422231 |
G>A |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs201905166 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant, genic downstream transcript variant |
|
rs398123247 |
C>G |
Pathogenic |
Splice donor variant |
|
rs398123248 |
A>T |
Likely-pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs398123249 |
G>A |
Pathogenic |
Non coding transcript variant, missense variant, intron variant, coding sequence variant |
|
rs398123250 |
A>G |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs398123251 |
T>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs483352904 |
GT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs483352905 |
GAG>- |
Pathogenic |
Non coding transcript variant, inframe deletion, coding sequence variant |
|
rs781997631 |
A>G,T |
Pathogenic |
5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant |
|
rs782347729 |
C>G,T |
Likely-pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant |
|
rs782738754 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs797044502 |
G>- |
Pathogenic |
Frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs797044671 |
->G |
Pathogenic |
Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
|
rs797044703 |
->TTGA |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs797044750 |
->A |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs797044770 |
->CCCTTAAACATCTT |
Pathogenic |
Stop gained, inframe indel, non coding transcript variant, coding sequence variant |
|
rs797044782 |
A>C |
Pathogenic |
Intron variant, downstream transcript variant, genic downstream transcript variant |
|
rs864622771 |
A>G |
Pathogenic |
Missense variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs864622772 |
G>A,T |
Likely-pathogenic, pathogenic |
Stop gained, missense variant, genic downstream transcript variant, coding sequence variant |
|
rs864622773 |
T>C |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs864622774 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs864622775 |
AGAGAAGGCCTCGGCC>- |
Pathogenic |
Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
|
rs864622776 |
A>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs864622777 |
C>T |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
|
rs864622778 |
C>T |
Pathogenic |
Splice donor variant |
|
rs864622779 |
C>G,T |
Likely-pathogenic, pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs869025301 |
C>G |
Likely-pathogenic |
Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant |
|
rs869025302 |
G>A |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
|
rs869025303 |
T>G |
Likely-pathogenic |
Missense variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs869025304 |
AA>CCAGCTATACGG |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs869025305 |
ACCTCGGGATCGGG>- |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
|
rs869025306 |
AA>- |
Pathogenic |
Frameshift variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant |
|
rs869025307 |
A>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs869025308 |
C>A |
Pathogenic |
Splice donor variant |
|
rs886044835 |
C>A,T |
Likely-pathogenic, pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant |
|
rs886044837 |
G>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant |
|
rs1085308006 |
T>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
|
rs1174495581 |
G>A,C |
Pathogenic |
Non coding transcript variant, coding sequence variant, synonymous variant, stop gained |
|
rs1557338127 |
G>A,T |
Pathogenic |
Missense variant, genic downstream transcript variant, coding sequence variant, stop gained, downstream transcript variant |
|
rs1557338131 |
T>A |
Pathogenic |
Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant |
|
rs1557338153 |
C>T |
Likely-pathogenic |
Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant |
|
rs1557338581 |
C>A |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs1557339507 |
T>A |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
|
rs1557339887 |
GAT>- |
Pathogenic |
Non coding transcript variant, inframe deletion, coding sequence variant |
|
rs1557339927 |
C>T |
Pathogenic |
Splice acceptor variant |
|
rs1557340221 |
TT>- |
Pathogenic |
Non coding transcript variant, frameshift variant, coding sequence variant |
|
rs1557340280 |
G>A |
Pathogenic |
Intron variant, missense variant, non coding transcript variant, coding sequence variant |
|
rs1557340286 |
G>A,T |
Pathogenic |
Intron variant, non coding transcript variant, synonymous variant, coding sequence variant, stop gained |
|
rs1557340403 |
G>A |
Pathogenic |
Non coding transcript variant, stop gained, 5 prime UTR variant, coding sequence variant |
|
rs1557340558 |
CTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCG |
Pathogenic |
Initiator codon variant, 5 prime UTR variant, non coding transcript variant, upstream transcript variant |
|
rs1569560392 |
G>C |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant |
|
rs1569560489 |
G>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
|
rs1569560527 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained, synonymous variant |
|
rs1569560528 |
C>G |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant |
|
rs1602725543 |
T>A |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant |
|
rs1602730439 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant |
|
rs1602734459 |
G>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1602740912 |
T>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1602742620 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, synonymous variant |
|
rs1602742854 |
GGCA>- |
Pathogenic |
Coding sequence variant, non coding transcript variant, frameshift variant |
|
rs1602745838 |
C>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
|
rs1602748255 |
C>G |
Pathogenic |
Splice donor variant |
|
rs1602750400 |
->AT |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant |