SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2145004096 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2145004155 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 52
RS2145008460 PTBP1 Health Risk Pathogenic PTBP1-related neurodevelopmental disorder with skeletal dysplasia, STAD SYNDROME
RS2145009900 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2145009956 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS2145010299 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2145010446 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2145011418 LAMA3 Health Risk Pathogenic —
RS2145011788 LAMA3 Health Risk Likely pathogenic —
RS2145011802 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2145012002 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2145012125 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2145012275 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2145013673 STAT3 Health Risk Conflicting classifications of pathogenicity STAT3-related disorder, STAT3-related disorder
RS2145014205 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2145024323 DCC Health Risk Pathogenic Mirror movements 1, Mirror movements 1
RS2145027657 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145028011 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145029870 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145030202 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2145030551 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145030587 CACNA1A Health Risk Pathogenic/Likely pathogenic CACNA1A-related complex neurodevelopmental disorder, Episodic ataxia type 2
RS2145030772 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2145031089 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145032405 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145032534 AMH Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS2145032993 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2145033356 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145036791 LRFN1 Health Risk Likely pathogenic LRFN1, LRFN1
RS2145043248 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS2145048234 TXNL4A Health Risk Pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
RS2145048688 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2145048931 CLPP Health Risk Likely pathogenic Perrault syndrome 3, Perrault syndrome 3
RS2145049426 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2145050572 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2145051196 CLPP Health Risk Pathogenic —
RS2145051267 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Global developmental delay
RS2145054624 DCC Health Risk Likely pathogenic —
RS2145055524 LAMA3 Health Risk Likely pathogenic —
RS2145057679 CIITA Health Risk Pathogenic MHC class II deficiency 1, MHC class II deficiency 1
RS2145059680 CIITA Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS2145063212 LAMA3 Health Risk Pathogenic —
RS2145074473 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2145076139 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145078770 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145079010 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145080530 MAP2K2 Health Risk Likely pathogenic Cardiofaciocutaneous syndrome 4, Cardiofaciocutaneous syndrome 4
RS2145081656 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145081748 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145085082 THRA Health Risk Likely pathogenic Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
RS2145085179 THRA Health Risk Pathogenic —
RS2145087228 THRA Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2145087272 THRA Health Risk Pathogenic —
RS2145087630 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS2145087756 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS2145089035 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS2145089648 TXNL4A Health Risk Pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
RS2145091141 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145091349 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS2145092336 SETBP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 29
RS2145092472 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS2145092503 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS2145092515 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2145093044 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS2145094562 SETBP1 Health Risk Likely pathogenic —
RS2145094630 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145094895 BRIP1 Health Risk Pathogenic —
RS2145095402 SETBP1 Health Risk Conflicting classifications of pathogenicity Schinzel-Giedion syndrome, Intellectual disability
RS2145095898 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2145095957 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145097019 COG1 Health Risk Pathogenic COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS2145097039 THRA Health Risk Pathogenic Congenital nongoitrous hypothyroidism 6, Congenital nongoitrous hypothyroidism 6
RS2145097123 SETBP1 Health Risk Pathogenic —
RS2145098103 LAMA3 Health Risk Pathogenic —
RS2145098172 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145099229 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS2145100544 SETBP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 29
RS2145100763 PGAP3 Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS2145104146 SETBP1 Health Risk Conflicting classifications of pathogenicity Schinzel-Giedion syndrome, Intellectual disability
RS2145104416 TERB1 Health Risk Pathogenic Non-obstructive azoospermia, Spermatogenic failure 60
RS2145104445 SETBP1 Health Risk Pathogenic —
RS2145105037 SETBP1 Health Risk Pathogenic —
RS2145105580 SETBP1 Health Risk Conflicting classifications of pathogenicity Schinzel-Giedion syndrome, Intellectual disability
RS2145105600 SETBP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 29
RS2145106470 SETBP1 Health Risk Pathogenic —
RS2145106713 LAMA3 Health Risk Pathogenic —
RS2145107064 LAMA3 Health Risk Pathogenic —
RS2145108345 SETBP1 Health Risk Likely pathogenic —
RS2145108363 SETBP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 29
RS2145110485 SETBP1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2145114772 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2145114867 SETBP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 29
RS2145114965 SETBP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 29
RS2145120326 CREB3L3 Health Risk Pathogenic Hypertriglyceridemia 2, Hypertriglyceridemia 2
RS2145124301 LAMA3 Health Risk Pathogenic —
RS2145124774 LAMA3 Health Risk Pathogenic —
RS2145125519 LAMA3 Health Risk Pathogenic —
RS2145134667 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2145135618 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145135739 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
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