Gene: RSPH1 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs138320978
rs138320978
RSPH1
3 0.925 0.160 21 42493049 stop gained C/A;T snv 2.6E-04; 2.0E-05 0.700 1.000 4 2013 2015
dbSNP: rs151107532
rs151107532
RSPH1
3 0.925 0.160 21 42486463 splice acceptor variant T/G snv 3.7E-04 4.7E-04 0.700 1.000 3 2013 2014
dbSNP: rs200382776
rs200382776
RSPH1
2 1.000 0.160 21 42477286 splice region variant C/T snv 2.6E-04 6.6E-05 0.700 1.000 1 2013 2013
dbSNP: rs587777635
rs587777635
RSPH1
2 1.000 21 42486455 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1060501861
rs1060501861
RSPH1
1 21 42486448 frameshift variant -/T delins 4.0E-06 2.8E-05 0.700 0
dbSNP: rs1064792947
rs1064792947
RSPH1
1 21 42482620 splice donor variant GCTCCGCAACTTACCAT/- delins 0.700 0
dbSNP: rs1555875358
rs1555875358
RSPH1
1 21 42477153 splice donor variant CACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACTC/- delins 0.700 0
dbSNP: rs556286752
rs556286752
RSPH1
1 21 42477337 frameshift variant -/T delins 2.1E-05 0.700 0
dbSNP: rs727503394
rs727503394
RSPH1
1 21 42482647 stop gained A/C snv 4.0E-06 0.700 0