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: rs758272654
rs758272654
0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
Pathological Conditions, Signs and Symptoms 0.030 1.000 3 2006 2010
dbSNP: rs7121
rs7121
0.882 0.160 20 58903752 missense variant C/G;T snv 0.54
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019