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: rs10206899
rs10206899
ALMS1P1
3 2 73673773 intron variant T/C;G snv 0.21; 3.9E-05 0.700 1.000 1 2010 2010
dbSNP: rs3127573
rs3127573
SLC22A2
2 6 160260361 5 prime UTR variant A/G snv 0.12 0.700 1.000 1 2010 2010
dbSNP: rs4805834
rs4805834
CEP89
2 19 32962753 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs8068318
rs8068318
TBX2
6 17 61406405 non coding transcript exon variant C/T snv 0.56 0.700 1.000 1 2010 2010
dbSNP: rs9992101
rs9992101
SHROOM3
2 4 76439278 intron variant G/A snv 0.28 0.700 1.000 1 2010 2010