Gene: RPGRIP1 ×
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: rs137853124
rs137853124
RPGRIP1
2 0.925 0.040 14 21294785 stop gained G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1057518122
rs1057518122
RPGRIP1
1 1.000 0.040 14 21334710 splice region variant G/A snv 8.8E-06 0.700 0
dbSNP: rs1555303320
rs1555303320
RPGRIP1
1 1.000 0.040 14 21330269 stop gained G/A snv 0.700 0
dbSNP: rs28937883
rs28937883
RPGRIP1
2 0.925 0.080 14 21325943 missense variant G/A;T snv 6.0E-05 0.700 0
dbSNP: rs398124354
rs398124354
RPGRIP1
1 1.000 0.040 14 21327687 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs574462207
rs574462207
RPGRIP1
1 1.000 0.040 14 21302561 synonymous variant A/G snv 4.8E-06 1.4E-05 0.700 0
dbSNP: rs61751266
rs61751266
RPGRIP1
2 0.925 0.040 14 21312458 frameshift variant A/- delins 0.700 0
dbSNP: rs759940113
rs759940113
RPGRIP1
3 0.882 0.080 14 21325903 stop gained C/A;T snv 8.0E-06 0.700 0
dbSNP: rs776880045
rs776880045
RPGRIP1
1 1.000 0.040 14 21312468 frameshift variant A/- delins 3.5E-05 0.700 0
dbSNP: rs780667159
rs780667159
RPGRIP1
2 0.925 0.040 14 21328469 stop gained C/T snv 4.0E-06 0.700 0