rs1555429629, RAD51

N. diseases: 23
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.
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
16 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Anus, Imperforate
CUI: C0003466
Disease: Anus, Imperforate
9 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
BRACHYDACTYLY, TYPE E1
CUI: C1862102
Disease: BRACHYDACTYLY, TYPE E1
3 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Delayed proximal femoral epiphyseal ossification
1 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
FANCONI ANEMIA, COMPLEMENTATION GROUP R
1 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
High, narrow palate
CUI: C1837404
Disease: High, narrow palate
21 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Overfolded helix
CUI: C1837731
Disease: Overfolded helix
7 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Port-Wine Stain
CUI: C0235752
Disease: Port-Wine Stain
10 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Radial polydactyly
CUI: C0345354
Disease: Radial polydactyly
3 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Short metatarsal
CUI: C1849020
Disease: Short metatarsal
1 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Short palpebral fissure
CUI: C0423112
Disease: Short palpebral fissure
16 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0