Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140749796
rs140749796
GNA11
0.925 0.080 19 3121122 missense variant C/G;T snv 8.0E-06
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 0
dbSNP: rs587777019
rs587777019
GNA11
0.882 0.120 19 3113412 missense variant T/A snv
CUI: C1840347
Disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) 		0.800 1.000 0 2013 2013
dbSNP: rs587777020
rs587777020
GNA11
0.925 0.080 19 3115009 missense variant G/A snv
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 1.000 0 2013 2013
dbSNP: rs587777021
rs587777021
GNA11
1.000 19 3110190 missense variant C/T snv
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 1.000 0 2013 2013
dbSNP: rs587777022
rs587777022
GNA11
1.000 19 3118950 missense variant C/G;T snv 4.0E-06
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.800 1.000 0 2013 2013
dbSNP: rs1057519742
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.750 1.000 5 1989 2018
dbSNP: rs1057519742
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.730 1.000 3 2011 2018
dbSNP: rs1057519742
rs1057519742
GNA11
0.827 0.160 19 3118944 missense variant A/C;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs587777707
rs587777707
GNA11
1.000 19 3110191 missense variant G/A;T snv 4.0E-06
CUI: C3809243
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 		0.700 0
dbSNP: rs672601249
rs672601249
GNA11
1.000 0.040 19 3115061 inframe deletion ATC/- delins
CUI: C1840347
Disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) 		0.700 0