MKRN3, makorin ring finger protein 3, 7681

N. diseases: 92; N. variants: 13
Disease: PRECOCIOUS PUBERTY, CENTRAL, 2 ×
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: 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: 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