Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555727493
rs1555727493
KMT2B
TGGCGGCGGCGGCG 0.700 CausalMutation CLINVAR

dbSNP: rs281875196
rs281875196
SMARCA2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs770374710
rs770374710
MAGEL2
TG 0.700 CausalMutation CLINVAR

dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
T 0.700 GeneticVariation CLINVAR

dbSNP: rs281875322
rs281875322
SMAD4
0.010 GeneticVariation BEFREE They both had de novo c.1498A > G (p.Ile500Val) variant in SMAD4 and presented with key characteristics of Myhre syndrome but also revealed uncommon features (polydactyly in the girl and precocious puberty in the boy). 31654632

2020
dbSNP: rs12441827
rs12441827
MKRN3
0.010 GeneticVariation BEFREE This study supports the impact of MKRN3 SNP rs12441827 on precocious puberty in Korean boys. 30053798

2018
dbSNP: rs6576457
rs6576457
MKRN3
0.010 GeneticVariation BEFREE Among four single nucleotide polymorphisms (SNPs) of MKRN3 and two SNPs of LIN28B examined, three SNPs (rs2239669, rs6576457, and rs12441827) showed significant associations with precocious puberty in additive models in boys but no significance was found in any SNPs in girls. 30053798

2018
dbSNP: rs121912532
rs121912532
LHCGR ; GTF2A1L ; STON1-GTF2A1L
0.010 GeneticVariation BEFREE He presented with precocious puberty at 10 months of age and was diagnosed with testotoxicosis due to a de novo heterozygous Asp578Tyr mutation in LHCGR. 29029242

2017
dbSNP: rs375705600
rs375705600
MKRN3
0.010 GeneticVariation BEFREE One paternally inherited rare variant, c.1034G>A (p.Arg345His), was identified in one girl with ICPP and in her brother with early puberty. 26331766

2015
dbSNP: rs768638173
rs768638173
NF1
0.010 GeneticVariation BEFREE Of the ten reported cases of NF1 due to R681X, one has presented with optic glioma and none with precocious puberty. 26666878

2015
dbSNP: rs141138948
rs141138948
EXOSC3
0.010 GeneticVariation BEFREE A homozygous p.D132A mutation leads to PCH with possible survival into early puberty, and preservation of the pons. 24524299

2014
dbSNP: rs746394859
rs746394859
CD44
0.010 GeneticVariation BEFREE A temporal study of male mice from 7 days to 24 weeks indicated that the knock-in mice with the mutated receptor (KiLHR(D582G)) exhibited precocious puberty with elevated testosterone levels as early as 7 days of age and through adulthood. 23861372

2013
dbSNP: rs2090409
rs2090409
LINC01505
0.010 GeneticVariation BEFREE These data suggest that rs314280 and rs2090409 polymorphisms are not a useful marker for prediction of the susceptibility of precocious puberty. 21528826

2011
dbSNP: rs314280
rs314280
LIN28B
0.010 GeneticVariation BEFREE These data suggest that rs314280 and rs2090409 polymorphisms are not a useful marker for prediction of the susceptibility of precocious puberty. 21528826

2011
dbSNP: rs6471
rs6471
CYP21A2
0.010 GeneticVariation BEFREE One of the patients with V281L heterozygous mutation developed true precocious puberty and the other one had rapid progressive early puberty and developed polycystic ovary syndrome. 22308849

2011
dbSNP: rs121912540
rs121912540
LHCGR ; GTF2A1L ; STON1-GTF2A1L
0.010 GeneticVariation BEFREE Variable presentation of precocious puberty associated with the D564G mutation of the LHCGR gene in children with testotoxicosis. 16887451

2006
dbSNP: rs121913495
rs121913495
GNAS
0.010 GeneticVariation BEFREE Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. 17101633

2006
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
0.010 GeneticVariation BEFREE Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. 17101633

2006
dbSNP: rs121912534
rs121912534
LHCGR ; GTF2A1L ; STON1-GTF2A1L
0.010 GeneticVariation BEFREE We also identified the previously described Ala568Val mutation in the third intracellular loop of the LHR in the other affected African-Brazilian boy and his normal prepubertal sister, suggesting the inherited form of precocious puberty in this boy. 9661624

1998
dbSNP: rs121912526
rs121912526
LHCGR ; GTF2A1L ; STON1-GTF2A1L
0.010 GeneticVariation BEFREE The constitutively higher cAMP levels caused by M398T are consistent with Leydig cell activation and precocious puberty in the patient. 8607787

1996