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: rs121912526
rs121912526
0.882 0.040 2 48688604 missense variant A/G snv
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
Endocrine System Diseases 0.010 1.000 1 1996 1996
dbSNP: rs121912532
rs121912532
0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121912534
rs121912534
0.882 0.040 2 48688094 missense variant G/A;T snv
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
Endocrine System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs121912540
rs121912540
0.882 0.040 2 48688106 missense variant T/C snv
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
Endocrine System Diseases 0.010 1.000 1 2006 2006