Gene: RPGRIP1L ×
Source: ALL
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: rs121918198
rs121918198
RPGRIP1L
3 0.882 0.320 16 53652844 missense variant T/G snv 6.4E-05 3.5E-05 0.710 0.857 7 2007 2015
dbSNP: rs121918204
rs121918204
RPGRIP1L
5 0.827 0.360 16 53652637 stop gained G/A snv 6.4E-05 2.1E-05 0.700 1.000 3 2007 2015
dbSNP: rs778149316
rs778149316
RPGRIP1L
3 0.882 0.320 16 53652977 frameshift variant -/T delins 4.0E-05 1.8E-04 0.700 1.000 1 2015 2015
dbSNP: rs1060501006
rs1060501006
RPGRIP1L
2 0.925 0.200 16 53671539 frameshift variant -/A;AA delins 0.700 0
dbSNP: rs1182447072
rs1182447072
RPGRIP1L
2 0.925 0.200 16 53641052 frameshift variant A/- del 4.0E-06 0.700 0
dbSNP: rs1277577195
rs1277577195
RPGRIP1L
2 0.925 0.200 16 53687912 stop gained T/A snv 4.2E-05 0.700 0
dbSNP: rs749987648
rs749987648
RPGRIP1L
2 0.925 0.200 16 53658793 frameshift variant TTTT/-;TTT;TTTTT delins 0.700 0
dbSNP: rs751128300
rs751128300
RPGRIP1L
2 0.925 0.200 16 53649068 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
dbSNP: rs756821449
rs756821449
RPGRIP1L
2 0.925 0.200 16 53657545 stop gained C/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs757594906
rs757594906
RPGRIP1L
2 0.925 0.200 16 53672927 frameshift variant G/- del 4.0E-06 0.700 0
dbSNP: rs767018622
rs767018622
RPGRIP1L
1 1.000 0.160 16 53638378 frameshift variant T/- delins 8.0E-06 7.0E-06 0.700 0
dbSNP: rs778824093
rs778824093
RPGRIP1L
2 0.925 0.200 16 53641364 frameshift variant AA/- del 8.0E-06 2.1E-05 0.700 0
dbSNP: rs786204135
rs786204135
RPGRIP1L
1 1.000 0.160 16 53696150 splice donor variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs878855006
rs878855006
RPGRIP1L
1 1.000 0.160 16 53664993 frameshift variant G/- delins 0.700 0