Source: CLINVAR

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: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
Lacrimoauriculodentodigital syndrome
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
Disproportionate short-limb short stature
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
Small for gestational age (disorder)
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C1859460
Disease: Bowed humerus
Bowed humerus
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0456070
Disease: Growth delay
Growth delay
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
Hypoplasia involving bones of the upper limbs
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0426817
Disease: Short ribs
Short ribs
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C1859461
Disease: Femoral bowing
Femoral bowing
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2
0.700 0
dbSNP: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.830 0.889 0 1995 2011