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
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
0.840 1.000 9 1995 2011
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
0.830 0.667 12 1993 2015
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
0.800 9 1995 2008
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
0.710 1.000 1 2016 2016
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.700 10 1995 2016
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
0.700 9 1995 2008
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C3552463
Disease: Very poor growth
Very poor growth
0.700 1 2015 2015
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
Squamous cell carcinoma of the head and neck
0.700 1 2016 2016
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C1859461
Disease: Femoral bowing
Femoral bowing
0.700 1 2015 2015
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax
0.700 1 2015 2015
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
0.700 1 2015 2015
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
Disproportionate short-limb short stature
0.700 1 2015 2015
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.700 1 2015 2015
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
Transitional cell carcinoma of bladder
0.700 1 2016 2016
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.700 1 1999 1999
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C0426817
Disease: Short ribs
Short ribs
0.700 1 2015 2015
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb
0.700 1 2015 2015
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.700 1 2014 2014
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature
0.700 1 2015 2015
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
Hypoplasia involving bones of the upper limbs
0.700 1 2015 2015
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C1859460
Disease: Bowed humerus
Bowed humerus
0.700 1 2015 2015
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
0.700 1 2015 2015