Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518345
rs1057518345
ADNP
CUI: C0456070
Disease: Growth delay
Growth delay 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057518781
rs1057518781
MCOLN1
CUI: C0456070
Disease: Growth delay
Growth delay 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
CUI: C0456070
Disease: Growth delay
Growth delay 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518817
rs1057518817
NPR2
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307845
rs1085307845
PHIP
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1135402758
rs1135402758
NUP214
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs113871094
rs113871094
FBN1
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
FGFR3
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1344172059
rs1344172059
ABCC8
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs141322087
rs141322087
ABCC8
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1426488816
rs1426488816
PLAA
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1441937959
rs1441937959
EFL1
CUI: C0456070
Disease: Growth delay
Growth delay 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs150681845
rs150681845
INTU
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553655558
rs1553655558
TRIP12
CUI: C0456070
Disease: Growth delay
Growth delay 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554032789
rs1554032789
NIPBL
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
CUI: C0456070
Disease: Growth delay
Growth delay 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555575860
rs1555575860
COG4
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555743003
rs1555743003
ASXL3
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs1557036768
rs1557036768
HUWE1
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1557781252
rs1557781252
GATAD2B
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1569518070
rs1569518070
COL6A1
CUI: C0456070
Disease: Growth delay
Growth delay 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs372392424
rs372392424
PIGG
CUI: C0456070
Disease: Growth delay
Growth delay 		T 0.700 CausalMutation CLINVAR

dbSNP: rs550423482
rs550423482
PNPO
CUI: C0456070
Disease: Growth delay
Growth delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
CUI: C0456070
Disease: Growth delay
Growth delay 		C 0.700 CausalMutation CLINVAR Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 22290197

2012