| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs34002892 |
GA>- |
Pathogenic |
Genic downstream transcript variant, coding sequence variant, frameshift variant |
|
rs34159654 |
T>G |
Likely-pathogenic, pathogenic |
Missense variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant |
|
rs34161232 |
A>TTT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs34256381 |
->TAGG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs34517004 |
T>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs34788341 |
A>C |
Pathogenic |
Intron variant |
|
rs34901902 |
GAGTT>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
|
rs34924076 |
->TATATATA |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs34940801 |
C>T |
Pathogenic |
Splice donor variant |
|
rs34946266 |
T>A,C |
Pathogenic, uncertain-significance |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs35878526 |
G>A |
Pathogenic |
5 prime UTR variant, coding sequence variant, stop gained |
|
rs36007394 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs78347057 |
G>A,T |
Benign-likely-benign, pathogenic, likely-benign |
Coding sequence variant, 5 prime UTR variant, synonymous variant, stop gained |
|
rs112543062 |
T>C,G |
Likely-pathogenic, uncertain-significance |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs137852895 |
T>C,G |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs137852896 |
G>A |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, stop gained |
|
rs137852897 |
G>A |
Pathogenic |
Coding sequence variant, stop gained, genic downstream transcript variant |
|
rs137852898 |
G>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs137852899 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs137852900 |
A>G |
Pathogenic |
Coding sequence variant, 5 prime UTR variant, missense variant |
|
rs138390866 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
|
rs142065232 |
A>T |
Likely-pathogenic, pathogenic |
Stop gained, coding sequence variant |
|
rs142172397 |
G>A,C |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
|
rs144060383 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs148918729 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, coding sequence variant |
|
rs200646278 |
G>A |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
|
rs281864947 |
G>T |
Pathogenic |
5 prime UTR variant, missense variant, genic upstream transcript variant, coding sequence variant |
|
rs281864948 |
C>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs281864949 |
->A |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs281864950 |
A>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
|
rs281864951 |
T>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs281864952 |
AAC>- |
Pathogenic |
Inframe deletion, 5 prime UTR variant, coding sequence variant |
|
rs281864953 |
C>A |
Pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs281864954 |
GT>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs281864955 |
G>- |
Pathogenic, likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs281864957 |
->T |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs281864958 |
A>T |
Pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs281864959 |
T>G |
Pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs281864960 |
T>C,G |
Pathogenic |
Intron variant |
|
rs281864961 |
CCTCC>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs281864962 |
C>T |
Pathogenic |
Splice acceptor variant |
|
rs281864963 |
CTTT>- |
Pathogenic, likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs281864964 |
->T |
Pathogenic, likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs281864965 |
GAGGA>- |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
|
rs281864966 |
->T |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs281864967 |
->T |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs281864968 |
G>A |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
|
rs281864969 |
G>A |
Pathogenic, likely-pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
|
rs281864970 |
C>A,T |
Pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs281864971 |
->AGCC |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs281864972 |
->A |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs281864973 |
A>G |
Pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs281864974 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs281864975 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs281864976 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281864977 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs281864978 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281864979 |
A>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs281864980 |
C>T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
|
rs281864981 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs281864982 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs281864983 |
CTAA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281864984 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281864985 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs281864986 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281864987 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281864988 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281864989 |
C>A,T |
Pathogenic |
Missense variant, synonymous variant, coding sequence variant |
|
rs281864990 |
->TC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281864991 |
T>-,TT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281864992 |
TT>- |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
|
rs281864993 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281864994 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281864995 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281864996 |
CTTTT>-,CTTTTCTTTT |
Pathogenic, likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs281864997 |
->C |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281864998 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
|
rs281864999 |
TTT>-,TT,TTTT |
Uncertain-significance, pathogenic, likely-pathogenic |
Frameshift variant, inframe deletion, coding sequence variant |
|
rs281865001 |
A>C |
Pathogenic, pathogenic-likely-pathogenic |
Splice donor variant |
|
rs281865002 |
T>A,G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs281865003 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs281865004 |
G>A,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs281865005 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs281865006 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
|
rs281865007 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs281865008 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs281865009 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs281865010 |
G>C |
Pathogenic |
Missense variant, coding sequence variant |
|
rs281865011 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281865012 |
C>G,T |
Pathogenic |
Splice donor variant |
|
rs281865013 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281865014 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281865015 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281865016 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs281865017 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281865018 |
AAAC>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs281865019 |
T>C |
Pathogenic |
Genic downstream transcript variant, missense variant, coding sequence variant |
|
rs281865020 |
TCTG>- |
Pathogenic |
Genic downstream transcript variant, stop gained, coding sequence variant |
|
rs281865021 |
ACATGGA>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs281865023 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs281865024 |
TCTG>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs281865025 |
C>T |
Pathogenic |
Synonymous variant, 5 prime UTR variant, coding sequence variant |
|
rs281865026 |
G>A |
Pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs281865027 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281865028 |
G>A,T |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
|
rs281865029 |
CT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281865030 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281865031 |
C>T |
Pathogenic |
Splice donor variant |
|
rs281865032 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281865033 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281865035 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs281865036 |
C>T |
Pathogenic |
Splice donor variant |
|
rs281865037 |
C>T |
Pathogenic |
Genic downstream transcript variant, splice acceptor variant |
|
rs281865038 |
AT>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs281865039 |
->T |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs397507447 |
G>A,T |
Pathogenic |
Stop gained, coding sequence variant, synonymous variant, 5 prime UTR variant |
|
rs397507448 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs397507562 |
C>G,T |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
|
rs398124396 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant |
|
rs398124397 |
C>A,T |
Pathogenic |
Stop gained, missense variant, coding sequence variant |
|
rs398124398 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs398124400 |
TT>- |
Pathogenic |
Frameshift variant, coding sequence variant, 5 prime UTR variant |
|
rs546802775 |
TTT>-,TT,TTTT |
Likely-benign, likely-pathogenic |
Intron variant |
|
rs747789493 |
T>-,TT |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
|
rs748389002 |
C>G,T |
Likely-pathogenic |
Splice acceptor variant |
|
rs748809942 |
->ATGC |
Likely-pathogenic |
Coding sequence variant, frameshift variant, 5 prime UTR variant |
|
rs750240374 |
C>T |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs751953529 |
C>T |
Likely-pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant |
|
rs752874974 |
->T |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs769587233 |
G>A,T |
Uncertain-significance, likely-pathogenic |
Coding sequence variant, missense variant |
|
rs774506925 |
A>T |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
|
rs781689303 |
CT>- |
Pathogenic |
Frameshift variant, genic downstream transcript variant, coding sequence variant |
|
rs794727302 |
CAAA>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs797044663 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs875989952 |
T>C |
Likely-pathogenic, pathogenic |
Splice acceptor variant |
|
rs1060499679 |
GTG>- |
Likely-pathogenic |
5 prime UTR variant, inframe deletion, coding sequence variant |
|
rs1060499680 |
C>A,T |
Likely-pathogenic |
Splice donor variant |
|
rs1060499681 |
C>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1060499684 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, genic downstream transcript variant |
|
rs1060499685 |
AA>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1060499687 |
GC>AT |
Likely-pathogenic |
Coding sequence variant, splice acceptor variant |
|
rs1060499688 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1060499689 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1324141092 |
C>A |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant, intron variant |
|
rs1327876395 |
C>A |
Likely-pathogenic |
Splice donor variant |
|
rs1408113895 |
G>- |
Likely-pathogenic, pathogenic |
Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant, genic upstream transcript variant |
|
rs1429181351 |
TA>- |
Likely-pathogenic, pathogenic |
Coding sequence variant, frameshift variant |
|
rs1555268712 |
->ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA |
Likely-pathogenic |
Intron variant, splice donor variant, coding sequence variant, splice acceptor variant |
|
rs1555269154 |
->CTTTGTGA |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555269488 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555270066 |
CC>- |
Likely-pathogenic |
Inframe indel, stop gained, coding sequence variant |
|
rs1555270321 |
C>- |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs1555270428 |
A>- |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs1555271215 |
A>T |
Likely-pathogenic |
Splice donor variant |
|
rs1555271217 |
C>G |
Likely-pathogenic |
Splice donor variant |
|
rs1555271865 |
->T |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
|
rs1555271868 |
T>C |
Likely-pathogenic |
Splice acceptor variant |
|
rs1555277061 |
C>G |
Pathogenic |
5 prime UTR variant, missense variant, intron variant, genic upstream transcript variant, coding sequence variant |
|
rs1555277081 |
G>T |
Likely-pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant |
|
rs1566067386 |
G>- |
Pathogenic |
Genic downstream transcript variant, frameshift variant, coding sequence variant |
|
rs1594204203 |
G>T |
Likely-pathogenic |
Missense variant, coding sequence variant, genic downstream transcript variant |
|
rs1594207573 |
CA>- |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1594210760 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1594213713 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1594214799 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1594242785 |
A>G |
Likely-pathogenic |
Splice donor variant |
|
rs1594269995 |
T>C |
Pathogenic |
Missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant |