| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs41419545 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic, uncertain-significance |
Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant |
| rs78683075 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, not-provided |
Non coding transcript variant, missense variant, coding sequence variant |
| rs80338682 |
G>-,GG |
Pathogenic |
Intron variant, frameshift variant, genic downstream transcript variant, coding sequence variant |
| rs137852929 |
G>A,C,T |
Pathogenic, likely-benign |
Stop gained, coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant |
| rs137852930 |
G>C |
Pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs142934950 |
C>A,T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, intron variant, stop gained, missense variant |
| rs150712346 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, synonymous variant, non coding transcript variant, coding sequence variant |
| rs150752548 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
| rs368778627 |
C>T |
Pathogenic |
Non coding transcript variant, stop gained, coding sequence variant |
| rs372207262 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign |
Genic downstream transcript variant, synonymous variant, intron variant, coding sequence variant |
| rs376825814 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Non coding transcript variant, intron variant, synonymous variant, coding sequence variant |
| rs398124523 |
G>A |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant |
| rs398124524 |
G>A,T |
Pathogenic, uncertain-significance |
Genic downstream transcript variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs398124525 |
G>- |
Pathogenic |
Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398124526 |
->G |
Pathogenic |
Genic downstream transcript variant, intron variant, coding sequence variant, frameshift variant |
| rs398124527 |
A>- |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant |
| rs398124528 |
T>C,G |
Likely-pathogenic, pathogenic |
Genic downstream transcript variant, splice acceptor variant |
| rs398124529 |
CTT>- |
Pathogenic-likely-pathogenic, pathogenic |
Non coding transcript variant, genic downstream transcript variant, inframe deletion, coding sequence variant |
| rs398124530 |
C>T |
Pathogenic |
Non coding transcript variant, genic downstream transcript variant, stop gained, coding sequence variant |
| rs398124532 |
G>A,C |
Pathogenic-likely-pathogenic, likely-pathogenic |
Intron variant, genic downstream transcript variant, stop gained, coding sequence variant, missense variant, non coding transcript variant |
| rs398124533 |
T>C |
Pathogenic |
Splice acceptor variant |
| rs398124534 |
T>- |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs398124535 |
AC>GTG |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs398124536 |
G>A,T |
Pathogenic, uncertain-significance, likely-benign |
Non coding transcript variant, stop gained, coding sequence variant, missense variant |
| rs398124538 |
GC>TA |
Pathogenic |
Non coding transcript variant, intron variant, stop gained, coding sequence variant |
| rs398124539 |
->AC |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs398124540 |
->G |
Pathogenic |
Non coding transcript variant, coding sequence variant, frameshift variant |
| rs398124541 |
TTCT>- |
Pathogenic |
Downstream transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
| rs398124542 |
->GTACTCTCTGGCAACACAGGGGCTTTCT |
Pathogenic |
Downstream transcript variant, genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant |
| rs558699420 |
G>A,T |
Uncertain-significance, pathogenic |
Non coding transcript variant, missense variant, stop gained, coding sequence variant |
| rs561236067 |
G>A,C,T |
Pathogenic, likely-benign |
Synonymous variant, coding sequence variant, stop gained, intron variant, genic downstream transcript variant |
| rs587781952 |
C>A |
Pathogenic |
Coding sequence variant, downstream transcript variant, stop gained, non coding transcript variant, genic downstream transcript variant |
| rs587782069 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, intron variant, non coding transcript variant |
| rs727504645 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, intron variant, non coding transcript variant |
| rs748148728 |
G>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, stop gained, intron variant, synonymous variant, genic downstream transcript variant |
| rs750146811 |
CGAC>- |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs753009073 |
->T |
Uncertain-significance, pathogenic |
Coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant, non coding transcript variant |
| rs754616167 |
G>A,T |
Pathogenic, likely-benign, uncertain-significance |
Coding sequence variant, stop gained, synonymous variant, non coding transcript variant |
| rs755959303 |
C>G,T |
Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic |
Splice donor variant, genic downstream transcript variant |
| rs757197845 |
->AATCTTAT |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant |
| rs758175953 |
C>A,G |
Likely-pathogenic, pathogenic |
Splice donor variant |
| rs758385503 |
G>-,GG |
Pathogenic |
Coding sequence variant, frameshift variant, non coding transcript variant |
| rs767671406 |
GGA>- |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Genic downstream transcript variant, intron variant |
| rs776896550 |
->T |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs786202081 |
C>T |
Pathogenic |
Splice acceptor variant |
| rs786202475 |
C>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
| rs786202541 |
G>C |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, intron variant, stop gained |
| rs786203218 |
AAG>- |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, intron variant, non coding transcript variant, inframe deletion |
| rs864622651 |
G>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, intron variant |
| rs876657646 |
A>G,T |
Likely-pathogenic |
Missense variant, coding sequence variant, intron variant, non coding transcript variant |
| rs876658390 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs876658409 |
C>A,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant, intron variant, non coding transcript variant |
| rs876660611 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs878854340 |
TCTGTAACAAC>- |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant |
| rs878854341 |
G>TC |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
| rs878855212 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs878855213 |
T>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, intron variant |
| rs878855214 |
T>C |
Likely-pathogenic |
Genic downstream transcript variant, intron variant, splice acceptor variant |
| rs878855217 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs878855218 |
C>A,G |
Pathogenic, likely-pathogenic |
Splice acceptor variant |
| rs878855220 |
A>TCT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs878855221 |
G>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant |
| rs879255658 |
C>G |
Pathogenic |
Missense variant, initiator codon variant, non coding transcript variant |
| rs879255660 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs879255661 |
CT>G |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255662 |
ACTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255663 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs879255664 |
G>A |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs879255666 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs879255667 |
G>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs879255668 |
A>C |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant |
| rs879255669 |
->T |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, downstream transcript variant |
| rs879255670 |
TGAAGACT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
| rs879255672 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
| rs879255673 |
TCTGCTTTTCCAGATC>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
| rs879255675 |
->T |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, intron variant |
| rs879255676 |
C>T |
Pathogenic |
Genic downstream transcript variant, intron variant, splice donor variant |
| rs879255677 |
->GCGGCTGCGTGGACCTC |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
| rs879255678 |
G>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
| rs879255679 |
->ACAG |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
| rs879255680 |
C>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
| rs879255681 |
CCT>- |
Pathogenic, likely-pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, inframe deletion |
| rs879255682 |
C>T |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
| rs879255683 |
G>A |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886037608 |
TCCA>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
| rs886037609 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886037610 |
GAAGTACTTCAAAAGCTGAC>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant |
| rs886039369 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886039370 |
A>C,G |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
| rs886039371 |
T>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886041203 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs886041478 |
T>A |
Pathogenic |
Stop gained, genic downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant |
| rs886042033 |
G>A |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained |
| rs932256543 |
C>A,T |
Pathogenic |
Downstream transcript variant, stop gained, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant |
| rs1057518043 |
GTGTCCTCTTTGGGTCGACTGT>- |
Likely-pathogenic |
Intron variant, genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1057518147 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1057520528 |
T>C |
Pathogenic |
Splice acceptor variant, intron variant, genic downstream transcript variant |
| rs1060502367 |
C>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, non coding transcript variant, missense variant, stop gained |
| rs1060502368 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
| rs1060502369 |
C>A |
Likely-pathogenic |
Splice donor variant |
| rs1060502370 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1060502371 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1064792959 |
ATGATGCTGTACCAGC>CTGAT |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1064793127 |
C>T |
Likely-pathogenic, uncertain-significance |
Intron variant |
| rs1064793128 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
| rs1064793766 |
A>C |
Pathogenic |
Intron variant, genic downstream transcript variant, splice donor variant |
| rs1085307478 |
ATGATGG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1085307771 |
->GCTG |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
| rs1131690824 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1131690825 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1131690826 |
C>T |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs1131690827 |
G>- |
Likely-pathogenic |
Intron variant, genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant |
| rs1131690828 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
| rs1131690829 |
->AC |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
| rs1131690830 |
C>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant, non coding transcript variant |
| rs1131690831 |
->GTGCC |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
| rs1131690832 |
C>T |
Pathogenic |
Genic downstream transcript variant, splice donor variant |
| rs1131690833 |
A>G |
Likely-pathogenic, uncertain-significance |
Intron variant, genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant |
| rs1131690835 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
| rs1131690836 |
CCCTG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1131690837 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, intron variant |
| rs1131690838 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, initiator codon variant |
| rs1131690839 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1131690840 |
C>T |
Pathogenic |
Splice acceptor variant |
| rs1131690841 |
CCCCACA>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant |
| rs1135401752 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1254608489 |
G>A,C |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant, stop gained, non coding transcript variant |
| rs1266098984 |
C>A,G |
Pathogenic |
Coding sequence variant, genic downstream transcript variant, missense variant, stop gained, intron variant |
| rs1414696397 |
T>- |
Pathogenic |
Frameshift variant, intron variant, non coding transcript variant, coding sequence variant |
| rs1490424623 |
G>C |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant, non coding transcript variant |
| rs1555607179 |
TGGTCATCCTCACACCC>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
| rs1555607212 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
| rs1555607273 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
| rs1555607296 |
T>C |
Pathogenic |
Splice acceptor variant, genic downstream transcript variant |
| rs1555607640 |
->TG |
Pathogenic |
Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant |
| rs1555607651 |
->C |
Pathogenic |
Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant |
| rs1555607929 |
C>A |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
| rs1555607960 |
G>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
| rs1555608515 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant |
| rs1555608552 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant |
| rs1555608614 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant |
| rs1555608617 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant |
| rs1555609514 |
T>C |
Pathogenic |
Splice acceptor variant |
| rs1555609899 |
G>A |
Pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1555610290 |
C>T |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1555611377 |
T>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555611438 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1555611494 |
C>A |
Likely-pathogenic |
Stop gained, non coding transcript variant, coding sequence variant |
| rs1567807238 |
T>- |
Pathogenic |
Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant |
| rs1567807517 |
A>G |
Likely-pathogenic |
Splice donor variant, genic downstream transcript variant |
| rs1567809782 |
G>- |
Pathogenic |
Frameshift variant, intron variant, genic downstream transcript variant, coding sequence variant |
| rs1567813248 |
C>A |
Likely-pathogenic |
Splice acceptor variant, genic downstream transcript variant, downstream transcript variant |
| rs1567816285 |
C>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1567816339 |
C>- |
Likely-pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1567819544 |
C>A |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1567819834 |
G>T |
Pathogenic |
Intron variant, stop gained, non coding transcript variant, coding sequence variant |
| rs1567822638 |
CCTGGCGG>- |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1597574368 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, intron variant |
| rs1597578776 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
| rs1597578868 |
TT>C |
Likely-pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
| rs1597579055 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
| rs1597580340 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant |
| rs1597591793 |
->TCTGTACTCTCTGGCAACACAGGGGCTT |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant |
| rs1597591875 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant |
| rs1597592246 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant |
| rs1597606551 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant, intron variant |
| rs1597607423 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, intron variant, stop gained |
| rs1597612985 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597613070 |
C>A |
Pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs1597617148 |
->TCCG |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597617757 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |
| rs1597618162 |
G>A |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, stop gained |
| rs1597618627 |
GAGAG>- |
Pathogenic |
Frameshift variant, coding sequence variant, non coding transcript variant |