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: rs1057518907
rs1057518907
GNAS
0.732 0.320 20 58891811 stop gained C/G;T snv
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.700 0
dbSNP: rs137854539
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.700 0
dbSNP: rs587777011
rs587777011
FAM111A
0.925 0.160 11 59153374 missense variant G/A snv
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.700 0