Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918487
rs121918487
FGFR2
G 0.710 CausalMutation CLINVAR

dbSNP: rs776587763
rs776587763
FGFR2
A 0.710 CausalMutation CLINVAR

dbSNP: rs1057518791
rs1057518791
TRPS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518817
rs1057518817
NPR2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499549
rs1060499549
ZNF462
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499550
rs1060499550
ZNF462
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060499551
rs1060499551
ZNF462
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918491
rs121918491
FGFR2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1276519904
rs1276519904
H3-3A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554442015
rs1554442015
TWIST1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555103652
rs1555103652
GRIN2B
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1557036768
rs1557036768
HUWE1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1564919048
rs1564919048
FGFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515514
rs397515514
FGFR3
T 0.700 CausalMutation CLINVAR

dbSNP: rs757744435
rs757744435
NPR2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs770374710
rs770374710
MAGEL2
TG 0.700 CausalMutation CLINVAR

dbSNP: rs771148519
rs771148519
WDR19
G 0.700 CausalMutation CLINVAR

dbSNP: rs886043613
rs886043613
FGFR3
T 0.700 CausalMutation CLINVAR

dbSNP: rs12883884
rs12883884
SLC8A3
0.010 GeneticVariation BEFREE A trend was also observed for decreased prevalence of rs12883884 in CRS patients compared with controls in the African American subgroup (p = 0.086). 28236359

2017
dbSNP: rs4647924
rs4647924
FGFR3
0.800 GeneticVariation BEFREE Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. 9279753

1997
dbSNP: rs121909627
rs121909627
FGFR1
0.020 GeneticVariation BEFREE Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. 9279753

1997
dbSNP: rs374608214
rs374608214
FGFR2
0.010 GeneticVariation BEFREE Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. 9279753

1997
dbSNP: rs77543610
rs77543610
FGFR2
0.040 GeneticVariation BEFREE P253R and nonsyndromic craniosynostosis osteoblasts showed a marked differentiated phenotype, characterized by high alkaline phosphatase activity, increased mineralization and expression of noncollagenous matrix proteins, associated with high expression and activation of protein kinase Calpha and protein kinase Cepsilon isoenzymes. 10329600

1999
dbSNP: rs776587763
rs776587763
FGFR2
0.710 GeneticVariation BEFREE C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients. 28849010

2017