ACTR1A, actin related protein 1A, 10121

N. diseases: 12; N. variants: 9
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10883723
rs10883723 		10 102466075 5 prime UTR variant T/C snv 0.29
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2274351
rs2274351 		10 102504350 intron variant C/G;T snv 0.48
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs35597970
rs35597970 		1.000 0.120 10 102469300 intron variant -/A delins 0.46
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3740415
rs3740415 		1.000 0.040 10 102472959 3 prime UTR variant G/A snv 0.48 0.48
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1554840869
rs1554840869 		0.925 0.160 10 102504322 frameshift variant -/C delins
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs1554840869
rs1554840869 		0.925 0.160 10 102504322 frameshift variant -/C delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1564654588
rs1564654588 		0.925 0.160 10 102504327 stop gained A/T snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs1564654588
rs1564654588 		0.925 0.160 10 102504327 stop gained A/T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs28942088
rs28942088 		1.000 0.040 10 102504196 missense variant C/T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs587776579
rs587776579 		1.000 0.040 10 102504217 frameshift variant C/-;CC delins
CUI: C1334970
Disease: Medulloblastoma with extensive nodularity
Medulloblastoma with extensive nodularity 		Neoplasms 0.700 0
dbSNP: rs863224925
rs863224925 		1.000 0.040 10 102504263 frameshift variant C/- del
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0