MKRN3, makorin ring finger protein 3, 7681

N. diseases: 92; N. variants: 13
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: rs12441827
rs12441827
1.000 0.040 15 23564574 upstream gene variant T/C snv 0.22
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs375705600
rs375705600
0.925 0.040 15 23566816 missense variant G/A snv 2.0E-05 2.8E-05
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs6576457
rs6576457
1.000 0.040 15 23564729 upstream gene variant G/A snv 0.27
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
Endocrine System Diseases 0.010 1.000 1 2018 2018