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: rs118204456
rs118204456
F12 ; GRK6 ; SLC34A1
7 0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 0.830 1.000 3 2009 2018
dbSNP: rs1554097246
rs1554097246
F12 ; GRK6 ; SLC34A1
1 1.000 0.120 5 177404172 splice donor variant CTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTTC/- delins 0.700 0
dbSNP: rs774034606
rs774034606
F12 ; GRK6 ; SLC34A1
1 1.000 0.120 5 177404302 inframe insertion -/AGGCGCCGCCTGGGTTGG delins 0.700 0