GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1407040
rs1407040
20 58897119 intron variant C/T snv 0.70
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 2 2019 2019
dbSNP: rs11554266
rs11554266
1.000 0.040 20 58903791 splice region variant C/G;T snv 4.0E-06; 2.3E-03
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2018 2018
dbSNP: rs6026578
rs6026578
20 58888417 5 prime UTR variant C/G snv 0.60
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2018 2018