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: rs879255240
rs879255240 		1.000 15 23566877 missense variant G/C;T snv 4.0E-06
CUI: C3809199
Disease: PRECOCIOUS PUBERTY, CENTRAL, 2
PRECOCIOUS PUBERTY, CENTRAL, 2 		0.800 1.000 5 2013 2014
dbSNP: rs117686021
rs117686021 		15 23565505 upstream gene variant C/T snv 1.9E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6576457
rs6576457 		1.000 0.040 15 23564729 upstream gene variant G/A snv 0.27
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs6576462
rs6576462 		1.000 15 23569519 non coding transcript exon variant C/T snv 0.93
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2019 2019
dbSNP: rs6576462
rs6576462 		1.000 15 23569519 non coding transcript exon variant C/T snv 0.93
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs6576462
rs6576462 		1.000 15 23569519 non coding transcript exon variant C/T snv 0.93
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2019 2019
dbSNP: rs6576462
rs6576462 		1.000 15 23569519 non coding transcript exon variant C/T snv 0.93
CUI: C0376705
Disease: Viral Load result
Viral Load result 		0.700 1.000 1 2019 2019
dbSNP: rs6576462
rs6576462 		1.000 15 23569519 non coding transcript exon variant C/T snv 0.93
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2019 2019
dbSNP: rs1264639964
rs1264639964 		1.000 15 23566764 missense variant C/T snv 4.0E-06
CUI: C3809199
Disease: PRECOCIOUS PUBERTY, CENTRAL, 2
PRECOCIOUS PUBERTY, CENTRAL, 2 		0.700 0
dbSNP: rs1566764505
rs1566764505 		1.000 15 23566108 missense variant G/A snv
CUI: C3809199
Disease: PRECOCIOUS PUBERTY, CENTRAL, 2
PRECOCIOUS PUBERTY, CENTRAL, 2 		0.700 0
dbSNP: rs371642799
rs371642799 		1.000 0.080 15 23566216 missense variant C/G;T snv 4.0E-06; 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs755791221
rs755791221 		1.000 15 23567042 missense variant T/G snv
CUI: C3809199
Disease: PRECOCIOUS PUBERTY, CENTRAL, 2
PRECOCIOUS PUBERTY, CENTRAL, 2 		0.700 0
dbSNP: rs763195944
rs763195944 		1.000 15 23566258 frameshift variant C/-;CC delins
CUI: C3809199
Disease: PRECOCIOUS PUBERTY, CENTRAL, 2
PRECOCIOUS PUBERTY, CENTRAL, 2 		0.700 0
dbSNP: rs879255238
rs879255238 		1.000 15 23566418 frameshift variant C/- delins
CUI: C3809199
Disease: PRECOCIOUS PUBERTY, CENTRAL, 2
PRECOCIOUS PUBERTY, CENTRAL, 2 		0.700 0
dbSNP: rs879255239
rs879255239 		1.000 15 23566953 stop gained -/A delins
CUI: C3809199
Disease: PRECOCIOUS PUBERTY, CENTRAL, 2
PRECOCIOUS PUBERTY, CENTRAL, 2 		0.700 0
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: rs375705600
rs375705600 		0.925 0.040 15 23566816 missense variant G/A snv 2.0E-05 2.8E-05
CUI: C0342544
Disease: Idiopathic central precocious puberty
Idiopathic central 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