| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs35619497 |
C>T |
Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign |
Missense variant, coding sequence variant |
|
rs55932635 |
G>A,C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs112883778 |
T>A,C |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs113849804 |
G>A,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
|
rs140592056 |
G>A |
Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
|
rs142454490 |
C>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs149787558 |
C>A,T |
Pathogenic, likely-benign |
Coding sequence variant, stop gained, synonymous variant |
|
rs189059377 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs191742018 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs199476084 |
C>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs199476085 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs199476086 |
C>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs199476087 |
T>A,C |
Uncertain-significance, pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs199476088 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs199476089 |
T>C |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant |
|
rs200951235 |
A>G,T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs576247658 |
T>C |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs587780107 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs587780109 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs587780783 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs587781407 |
A>G |
Likely-pathogenic |
Splice acceptor variant |
|
rs587781928 |
GA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs587782388 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs587782400 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs587782494 |
C>T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs587782578 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs587782682 |
C>A,T |
Likely-benign, benign, pathogenic, benign-likely-benign |
Coding sequence variant, synonymous variant, stop gained |
|
rs587782760 |
A>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs587783038 |
->A |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs730881431 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs759363072 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, missense variant |
|
rs759647230 |
C>A,T |
Pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs763313220 |
C>A,G,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs764466442 |
C>G,T |
Pathogenic, uncertain-significance |
Coding sequence variant, stop gained, missense variant |
|
rs771504880 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs771910503 |
C>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, missense variant, stop gained |
|
rs786201038 |
T>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs786201040 |
C>T |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
|
rs786201501 |
->T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs786201715 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs786203157 |
A>C,G |
Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic |
Missense variant, initiator codon variant |
|
rs786204187 |
TTTGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs863224719 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs869312758 |
G>A,C |
Pathogenic |
Missense variant, initiator codon variant |
|
rs869312783 |
->TTAG |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs869312790 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs876658515 |
C>T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs876658891 |
T>C,G |
Likely-benign, pathogenic |
Stop gained, coding sequence variant, synonymous variant |
|
rs876659520 |
C>A |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Coding sequence variant, synonymous variant |
|
rs876659988 |
A>GTTCATAGCGG |
Pathogenic |
Stop gained, coding sequence variant, inframe indel |
|
rs876660442 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs878854664 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs878854667 |
C>A,T |
Uncertain-significance, pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs878854672 |
G>C |
Likely-pathogenic |
Splice donor variant |
|
rs878854673 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs879254272 |
C>T |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Coding sequence variant, missense variant |
|
rs929042482 |
A>G |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs1047677696 |
T>C |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
5 prime UTR variant |
|
rs1057517610 |
C>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
|
rs1060503393 |
A>G |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Intron variant |
|
rs1060503407 |
A>G |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs1060503408 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1060503409 |
CTCT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064792985 |
TATTAATAACACATGC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064793490 |
C>G,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs1064794031 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064795654 |
GA>TTTC |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064796072 |
G>- |
Likely-pathogenic |
Splice acceptor variant, coding sequence variant |
|
rs1131691167 |
A>C,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs1131691168 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1131691171 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1131691172 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1131691173 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1131691174 |
G>A,C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1131691175 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1131691176 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1131691178 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs1131691179 |
TGATGGCAGCATTCGATG>GA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1131691180 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1131691181 |
C>G |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
|
rs1131691182 |
T>C,G |
Likely-benign, pathogenic |
Stop gained, synonymous variant, coding sequence variant |
|
rs1131691183 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1131691184 |
->AA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1131691185 |
C>G,T |
Uncertain-significance, pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs1230919713 |
C>A,T |
Pathogenic, likely-benign |
Synonymous variant, coding sequence variant, stop gained |
|
rs1392086533 |
C>A,T |
Pathogenic, likely-benign |
Synonymous variant, coding sequence variant, stop gained |
|
rs1404557708 |
C>A,T |
Uncertain-significance, pathogenic |
Coding sequence variant, stop gained, missense variant |
|
rs1413243663 |
C>A,T |
Likely-benign, pathogenic |
Coding sequence variant, synonymous variant, stop gained |
|
rs1554886815 |
->T |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554886816 |
TGTT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554886821 |
C>G,T |
Pathogenic, uncertain-significance |
Stop gained, missense variant, coding sequence variant |
|
rs1554888114 |
->T |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554888134 |
->TGTCC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554888310 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1554888317 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554888329 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554888970 |
AGAATGTTGTCGGACCAAT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554888986 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554890213 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1554890219 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554890734 |
G>A,C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1554890743 |
C>T |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1554890759 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554890815 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554891016 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554891032 |
->ATTT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554891043 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554891044 |
C>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1554891056 |
AGCCCT>TGTA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554891075 |
C>A,T |
Pathogenic, uncertain-significance |
Stop gained, missense variant, coding sequence variant |
|
rs1554891077 |
G>A,T |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs1554891089 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554891102 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554891331 |
->AA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1554891570 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1564673999 |
CGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCT |
Pathogenic |
Genic upstream transcript variant, intron variant, splice donor variant, 5 prime UTR variant, upstream transcript variant |
|
rs1564710641 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1564714804 |
GA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1564714809 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1564714834 |
T>A |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1564715427 |
G>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1564721929 |
->A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1564722014 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1564723486 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1564724111 |
AGGTT>- |
Likely-pathogenic |
Splice acceptor variant, coding sequence variant |
|
rs1564724278 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1564725052 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1564725603 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1589288524 |
G>T |
Likely-pathogenic |
Splice acceptor variant |
|
rs1589290773 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1589290779 |
CA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1589290813 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs1589291548 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1589291774 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1589292553 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
|
rs1589292655 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1589292746 |
T>G |
Likely-pathogenic |
Splice donor variant |
|
rs1589293414 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1589293533 |
G>A |
Likely-pathogenic |
Splice donor variant |
|
rs1589757037 |
AAT>- |
Likely-pathogenic |
Inframe deletion, 5 prime UTR variant, initiator codon variant |
|
rs1589763343 |
->CCATGGCACTGGGAT |
Pathogenic |
Inframe insertion, coding sequence variant |
|
rs1589763393 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1589764273 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1589768027 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |