Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519334
rs1057519334
NPR2
CUI: C2673410
Disease: Small midface
Small midface 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519338
rs1057519338
AMMECR1
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060505041
rs1060505041
NACC1
CUI: C2673410
Disease: Small midface
Small midface 		T 0.700 CausalMutation CLINVAR

dbSNP: rs113422242
rs113422242
FBN1
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918504
rs121918504
FGFR2
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1400419650
rs1400419650
TRIP11
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
CUI: C2673410
Disease: Small midface
Small midface 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554888939
rs1554888939
EHMT1
CUI: C2673410
Disease: Small midface
Small midface 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555038111
rs1555038111
KMT2A
CUI: C2673410
Disease: Small midface
Small midface 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1555386022
rs1555386022
TRIP11
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555429629
rs1555429629
RAD51
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555706928
rs1555706928
SETBP1
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1559662068
rs1559662068
BRPF1
CUI: C2673410
Disease: Small midface
Small midface 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1561875767
rs1561875767
CUL7 ; KLC4
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1565679039
rs1565679039
COL2A1
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1566823361
rs1566823361
FGF14
CUI: C2673410
Disease: Small midface
Small midface 		TG 0.700 GeneticVariation CLINVAR

dbSNP: rs1568269273
rs1568269273
NFIX
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs200661329
rs200661329
PIGQ
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs397516827
rs397516827
RAF1
CUI: C2673410
Disease: Small midface
Small midface 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs587784105
rs587784105
NSD1
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 CausalMutation CLINVAR

dbSNP: rs765498367
rs765498367
AMMECR1 ; LOC105373312
CUI: C2673410
Disease: Small midface
Small midface 		T 0.700 CausalMutation CLINVAR

dbSNP: rs770374710
rs770374710
MAGEL2
CUI: C2673410
Disease: Small midface
Small midface 		TG 0.700 CausalMutation CLINVAR

dbSNP: rs77078070
rs77078070
KLHL7
CUI: C2673410
Disease: Small midface
Small midface 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs797045954
rs797045954
SF3B4
CUI: C2673410
Disease: Small midface
Small midface 		G 0.700 CausalMutation CLINVAR