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: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.040 0.500 4 2002 2013
dbSNP: rs1182055544
rs1182055544
20 58853903 missense variant G/A snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1317816474
rs1317816474
20 58909544 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 < 0.001 1 2013 2013