| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs1131695 |
G>A,C,T |
Pathogenic, likely-benign, benign |
Coding sequence variant, synonymous variant, stop gained |
|
rs28939668 |
C>T |
Likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs121918350 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121918351 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121918352 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs121918353 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs142808131 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs142855305 |
C>G |
Conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs147793030 |
G>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs148990028 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs151291264 |
C>T |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs199505265 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs202063628 |
G>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs267605834 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
|
rs372121353 |
G>A |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs372984801 |
G>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs533306015 |
G>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs542831744 |
G>A,T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs727504412 |
ACTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs746664646 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs753161584 |
C>A,T |
Pathogenic |
Coding sequence variant, missense variant, stop gained |
|
rs755427292 |
G>A,T |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, synonymous variant |
|
rs766479402 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs769531968 |
G>A |
Likely-pathogenic, uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
|
rs771544217 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
|
rs775363555 |
G>A |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs863223648 |
C>T |
Likely-pathogenic, pathogenic |
Splice donor variant |
|
rs863223649 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs863223655 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs863223661 |
TCCGTGGGGAACGCATCGCTGCGCCGCGCG>- |
Pathogenic |
Initiator codon variant, 5 prime UTR variant, inframe deletion |
|
rs863223662 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs863223663 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs863223664 |
GC>A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs863223665 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs863223666 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs863223667 |
CC>-,CCC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs863223668 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs863223669 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs863223672 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs863223673 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs863223674 |
CC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs863223675 |
A>- |
Pathogenic |
Coding sequence variant, stop gained |
|
rs863223676 |
->TC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs863223677 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs863223678 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs863223680 |
G>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs863223682 |
AGGAGT>GGAG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs863223683 |
->AG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs876660977 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs876660978 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs876660979 |
C>A,T |
Pathogenic |
Splice donor variant |
|
rs876660980 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
|
rs876660981 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs876661061 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs876661066 |
C>T |
Pathogenic |
Splice donor variant |
|
rs876661095 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs876661096 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs876661121 |
C>A,T |
Pathogenic |
Splice donor variant |
|
rs876661123 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs876661126 |
CA>- |
Pathogenic |
Inframe indel, coding sequence variant, stop gained |
|
rs876661142 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs876661165 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs876661182 |
T>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs876661229 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs878853752 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886039393 |
TTTCC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886039539 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886039696 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886039724 |
GA>TT |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886039887 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886041727 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886041782 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886041868 |
G>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs886042050 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886042155 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886043130 |
GGCG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886043603 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886043605 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886043606 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886043869 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886043904 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886044111 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs886044136 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886044220 |
T>C,G |
Uncertain-significance, pathogenic |
Intron variant |
|
rs886044349 |
C>- |
Pathogenic |
Splice donor variant, coding sequence variant |
|
rs886044704 |
C>G,T |
Uncertain-significance, pathogenic |
Intron variant |
|
rs1060501347 |
->A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1060501349 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1060501350 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1060501351 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1060501352 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1064796702 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1085307595 |
A>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1131691963 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1289016419 |
G>A,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs1294950721 |
C>A,T |
Pathogenic |
Splice donor variant |
|
rs1437309558 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555827650 |
CT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555827653 |
ACTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555827717 |
->TGAAGGGGAAGGCTCGC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555827729 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555827760 |
C>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555827769 |
AGGGGTGGACGAAGC>TGCCCTGG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555827789 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1555827790 |
CACCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555828173 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555828209 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555828250 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555828321 |
CA>- |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
|
rs1555828546 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555828577 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555828640 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555828646 |
TTCA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555828652 |
->TC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555829037 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555829039 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555829065 |
T>C |
Likely-pathogenic |
Intron variant |
|
rs1555829660 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1555830919 |
A>G |
Pathogenic |
Splice donor variant |
|
rs1555830922 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555830929 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555830957 |
C>G,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs1555830976 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555831014 |
C>T |
Pathogenic |
Initiator codon variant, missense variant |
|
rs1568791022 |
->G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568791393 |
GAGGCCGCCTCTGAACTCTT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568791694 |
->AAGGCTC |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1568791920 |
C>G |
Pathogenic |
Splice donor variant |
|
rs1568792125 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1568792238 |
C>A |
Pathogenic |
Splice donor variant |
|
rs1568792286 |
CA>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1568792344 |
CTC>TGCATCA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568793232 |
CTTA>- |
Pathogenic |
Intron variant, coding sequence variant, splice donor variant |
|
rs1568793265 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1568793309 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568793670 |
C>T |
Pathogenic |
Splice acceptor variant |
|
rs1568794128 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568794159 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568795820 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568796158 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1568796236 |
CA>- |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
|
rs1568796241 |
TGA>G |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568796298 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1568798024 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1568798289 |
CA>- |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
|
rs1568798388 |
C>A |
Pathogenic |
Splice acceptor variant |
|
rs1568801068 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1568801096 |
->A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1568807044 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568807161 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1568807463 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568807483 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600178720 |
->GGGAAGGCTCG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600178730 |
->AGGCT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600179237 |
->GC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600179847 |
CTGTGCCCTGGAGGGCAGACACA>ATGTGC |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600179855 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1600179892 |
CA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600181733 |
->C |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600182107 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1600182812 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600185804 |
->ACT |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1600186024 |
C>T |
Pathogenic |
Splice donor variant |
|
rs1600196349 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1600196426 |
ACTGATACTCCTTGAG>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600196443 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1600196455 |
A>C,G |
Pathogenic |
Coding sequence variant, missense variant |
|
rs1600196580 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |