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: rs137853263
rs137853263
OCRL
2 0.925 0.200 X 129562396 missense variant C/A;T snv 0.800 1.000 5 2005 2014
dbSNP: rs137853846
rs137853846
OCRL
1 1.000 0.120 X 129569274 missense variant C/T snv 0.800 1.000 4 2005 2014
dbSNP: rs137853262
rs137853262
OCRL
1 1.000 0.120 X 129567333 missense variant A/G snv 0.800 1.000 3 2005 2011
dbSNP: rs137853833
rs137853833
OCRL
1 1.000 0.120 X 129562602 missense variant A/C snv 0.700 1.000 3 2005 2011
dbSNP: rs1556338810
rs1556338810
OCRL
1 1.000 0.120 X 129545025 splice donor variant AGATGTGTTCAAGGTACTAGCTTTAATTCCTTAGCTAGTTTTATAATGTTTTTTCTCGGTCATTACTGCATTATGTAATACCATACATATTTAAATTTGTCAGTGCATGTAAAATGAAATGTATTACTCTTTGCATAAAAAGATAACATTGAGGAGATGATACTTTCTCTAAGAATGCTGAAGGGTTATATCGAAATATATTTGTATATGTGTGTCTATAGTCTCACCTGTTTCCTTGGCTTGGGTTAGAGATGTATGTAGATTGTTACCTGTGTAGGTAGTTTTTTATGCTGACTGACCTATATGTGGATTTAAATAACATTCTTGGGCTTAACGGACACAGTGCTCATAAGGTACCAAGGTCACTTGGATTCACACACATTCAGCACTTTCTCCACATGCTATTTGAAATTAAGACATTTGGCAACATGCCTTGCCAGACTGTAATATCTTACACTCAAT/- del 0.700 1.000 1 2016 2016
dbSNP: rs773387490
rs773387490
INPP5B ; LOC105378651
1 1.000 0.120 1 37945756 missense variant G/A snv 2.4E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs776743373
rs776743373
OCRL
2 0.925 0.200 X 129562373 intron variant G/A;T snv 2.2E-05 0.700 0