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: rs28931615
rs28931615
FGFR3
A 0.700 CausalMutation CLINVAR Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 7493034

1995
dbSNP: rs28933068
rs28933068
FGFR3
A 0.700 CausalMutation CLINVAR A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. 7670477

1995
dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. 7670477

1995
dbSNP: rs28933068
rs28933068
FGFR3
A 0.700 CausalMutation CLINVAR A common FGFR3 gene mutation in hypochondroplasia. 8589686

1995
dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR A common FGFR3 gene mutation in hypochondroplasia. 8589686

1995
dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. 8589699

1995