Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913482
rs121913482
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder)
T 0.840 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
T 0.830 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
Malignant neoplasm of urinary bladder
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
T 0.710 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913482
rs121913482
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
T 0.710 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
Transitional cell carcinoma of bladder
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913482
rs121913482
Squamous cell carcinoma of the head and neck
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913482
rs121913482
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs121913482
rs121913482
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913482
rs121913482
CUI: C0007097
Disease: Carcinoma
Carcinoma
T 0.700 GeneticVariation CLINVAR Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 10471491

1999

dbSNP: rs121913482
rs121913482
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
CUI: C1859461
Disease: Femoral bowing
Femoral bowing
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
Small for gestational age (disorder)
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
Hypoplasia involving bones of the upper limbs
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
CUI: C0349588
Disease: Short stature
Short stature
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
T 0.700 CausalMutation CLINVAR

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

dbSNP: rs121913482
rs121913482
Lacrimoauriculodentodigital syndrome
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder)
T 0.700 CausalMutation CLINVAR