SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs12021720 |
T>A,C |
Pathogenic, benign |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs74103423 |
C>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs75525811 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, genic downstream transcript variant, coding sequence variant |
rs121964999 |
A>C |
Pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity |
Non coding transcript variant, missense variant, coding sequence variant |
rs121965000 |
C>A |
Pathogenic |
Genic downstream transcript variant, terminator codon variant, stop lost |
rs121965001 |
G>C |
Pathogenic |
Missense variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant |
rs121965002 |
T>C |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
rs121965003 |
G>C |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
rs138796800 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Synonymous variant, coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant |
rs185492864 |
G>A,C |
Pathogenic-likely-pathogenic, pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
rs201559874 |
G>C,T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
rs398123660 |
G>A |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
rs398123662 |
A>C |
Pathogenic, uncertain-significance |
Coding sequence variant, missense variant, genic downstream transcript variant |
rs398123663 |
A>G |
Likely-pathogenic |
Genic downstream transcript variant, stop lost, terminator codon variant |
rs398123665 |
C>T |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant |
rs398123666 |
ACTG>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant |
rs398123667 |
ATCATAA>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant |
rs398123668 |
T>-,TT |
Pathogenic, likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant |
rs398123669 |
C>A |
Pathogenic |
Splice donor variant, genic upstream transcript variant |
rs398123674 |
T>C |
Pathogenic |
Splice acceptor variant |
rs398123675 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, non coding transcript variant |
rs398123676 |
C>G |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
rs727503895 |
GTAACAAGGTAA>- |
Pathogenic |
Intron variant |
rs748851630 |
CAACTTTG>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
rs754004231 |
C>T |
Likely-pathogenic |
Splice acceptor variant |
rs767760099 |
C>T |
Uncertain-significance, likely-pathogenic |
Stop gained, coding sequence variant, genic downstream transcript variant |
rs768832921 |
AT>- |
Pathogenic-likely-pathogenic, pathogenic |
Upstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant |
rs770981889 |
C>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
rs775808731 |
C>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, non coding transcript variant |
rs794727262 |
A>C |
Pathogenic, likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, upstream transcript variant, non coding transcript variant |
rs794727635 |
C>A |
Pathogenic |
Splice donor variant, intron variant |
rs796052134 |
C>- |
Pathogenic |
Splice donor variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant |
rs796052135 |
T>C |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, intron variant |
rs869312132 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
rs1064795955 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
rs1131691488 |
G>A |
Likely-pathogenic, uncertain-significance |
Missense variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant |
rs1553228653 |
TAGA>- |
Likely-pathogenic |
Intron variant, genic downstream transcript variant, splice acceptor variant |
rs1553229661 |
TG>- |
Likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, stop gained |
rs1553230841 |
G>A |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
rs1553231037 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs1553232188 |
T>C |
Likely-pathogenic |
Intron variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant |
rs1553232197 |
CTGTATCTCCTTCTTTTACA>- |
Likely-pathogenic |
Intron variant, 5 prime UTR variant, non coding transcript variant, frameshift variant, coding sequence variant |
rs1553233152 |
TA>- |
Likely-pathogenic |
Inframe indel, 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained |
rs1557943881 |
C>A |
Likely-pathogenic |
Genic downstream transcript variant, splice donor variant |
rs1570806631 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant |
rs1570816218 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
rs1570820579 |
C>A |
Likely-pathogenic |
Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant |
rs1570836175 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant, intron variant, 5 prime UTR variant, non coding transcript variant |