GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: McCune-Albright Syndrome ×
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: rs121913495
rs121913495 		0.672 0.400 20 58909366 missense variant G/A;T snv
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		Musculoskeletal Diseases 0.850 1.000 11 1991 2018
dbSNP: rs11554273
rs11554273 		0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		Musculoskeletal Diseases 0.700 1.000 2 2004 2013
dbSNP: rs1569032751
rs1569032751 		1.000 0.040 20 58910787 inframe deletion CAT/- delins
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		Musculoskeletal Diseases 0.700 1.000 2 1996 2001
dbSNP: rs121913494
rs121913494 		0.827 0.240 20 58909541 missense variant A/G;T snv
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		Musculoskeletal Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1057518907
rs1057518907 		0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		Musculoskeletal Diseases 0.700 0
dbSNP: rs137854530
rs137854530 		0.776 0.240 20 58891727 start lost A/G;T snv
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		Musculoskeletal Diseases 0.700 0
dbSNP: rs137854533
rs137854533 		0.925 0.040 20 58909542 missense variant G/C;T snv
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		Musculoskeletal Diseases 0.700 0
dbSNP: rs797045203
rs797045203 		1.000 0.040 20 58909540 missense variant C/A snv
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		Musculoskeletal Diseases 0.700 0