rs727503109, KRAS

N. diseases: 17
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
82 0.752 0.320 12 25245277 missense variant T/C snv 0.700 1.000 3 1993 2009
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 0.752 0.320 12 25245277 missense variant T/C snv 0.700 1.000 3 1993 2009
Abnormality of hair density
CUI: C4023401
Disease: Abnormality of hair density
1 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
Bilateral ptosis
CUI: C1865916
Disease: Bilateral ptosis
14 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
Congenital pectus carinatum
CUI: C0158731
Disease: Congenital pectus carinatum
26 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
Delayed eruption of primary teeth
CUI: C1849538
Disease: Delayed eruption of primary teeth
2 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
High forehead
CUI: C0239676
Disease: High forehead
17 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
Narrow palpebral fissure
CUI: C2675021
Disease: Narrow palpebral fissure
3 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
NOONAN SYNDROME 3
CUI: C1860991
Disease: NOONAN SYNDROME 3
33 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
Posteriorly rotated ear
CUI: C0431478
Disease: Posteriorly rotated ear
23 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
Red hair
CUI: C0239803
Disease: Red hair
1 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
Tented upper lip vermilion
CUI: C1839767
Disease: Tented upper lip vermilion
8 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
Trigonocephaly
CUI: C0265535
Disease: Trigonocephaly
7 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0