Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		0.900 0.981 53 1994 2020
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		0.800 0
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		0.780 1.000 8 1995 2020
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		0.720 1.000 2 1996 2002
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 1.000 5 1996 2015
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.060 1.000 6 1999 2016
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		0.020 1.000 2 1996 2002
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0025995
Disease: Micromelia
Micromelia 		0.010 1.000 1 2009 2009
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.010 1.000 1 2017 2017
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs28931614
rs28931614
FGFR3
0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 1996 1996