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
RS1564390684 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS1564391327 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS1564395473 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1564399278 GATA3 Health Risk Pathogenic —
RS1564400585 SYNE1 Health Risk Likely pathogenic —
RS1564400647 WAC Health Risk Conflicting classifications of pathogenicity DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS1564405153 GATA3 Health Risk Likely pathogenic —
RS1564405163 GATA3 Health Risk Likely pathogenic Hypoparathyroidism, deafness
RS1564412484 CUBN Health Risk Likely pathogenic Proteinuria, chronic benign
RS1564414523 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1564414831 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS1564415555 SLC34A3 Health Risk Pathogenic —
RS1564418237 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1564418254 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1564421528 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS1564422380 WAC Health Risk Pathogenic —
RS1564422441 ADAMTS13 Health Risk Pathogenic/Likely pathogenic ADAMTS13-related disorder, ADAMTS13-related disorder
RS1564426201 PHYH Health Risk Pathogenic/Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS1564430716 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1564435102 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1564435513 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1564435943 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1564438804 DCLRE1C Health Risk Likely pathogenic Histiocytic medullary reticulosis, Histiocytic medullary reticulosis
RS1564439559 ODAD2 Health Risk Likely pathogenic Male infertility, Primary ciliary dyskinesia
RS1564443979 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1564443994 ADAMTS13 Health Risk Pathogenic —
RS1564446117 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1564446526 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS1564452060 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1564452075 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1564452667 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1564452685 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1564452747 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1564452759 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1564453019 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1564453538 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1564453619 ENG Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS1564453634 ENG Health Risk Pathogenic —
RS1564453831 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1564453833 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1564455554 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1564455577 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1564455604 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1564455715 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1564455970 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1564456347 ENG Health Risk Pathogenic —
RS1564456374 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1564457102 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1564457752 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1564462765 ENG Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1564462827 ENG Health Risk Pathogenic —
RS1564462834 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1564463870 COL5A1 Health Risk Likely pathogenic —
RS1564466393 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1564466414 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1564471440 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1564471932 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1564474542 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS1564474974 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1564475090 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1564475110 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1564475884 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1564477140 COL5A1 Health Risk Pathogenic —
RS1564477162 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1564478485 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1564478705 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1564479424 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1564480935 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1564481053 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1564481122 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1564481573 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1564482221 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS1564482288 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1564482508 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1564482622 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1564487289 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1564487306 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1564488264 TSC1 Health Risk Likely pathogenic Isolated focal cortical dysplasia type II, Tuberous sclerosis 1
RS1564488773 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1564488810 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1564489315 RET Health Risk Pathogenic Aganglionic megacolon, Aganglionic megacolon
RS1564490097 RET Health Risk Likely pathogenic Aganglionic megacolon, Aganglionic megacolon
RS1564490210 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1564491460 RET Health Risk Likely pathogenic Aganglionic megacolon, Aganglionic megacolon
RS1564492117 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS1564492988 CUBN Health Risk Likely pathogenic; Affects Imerslund-Grasbeck syndrome, Proteinuria
RS1564493414 RET Health Risk Conflicting classifications of pathogenicity Ependymoma, Hereditary cancer-predisposing syndrome
RS1564493599 TRPM3 Health Risk Pathogenic/Likely pathogenic Seizure, Global developmental delay
RS1564494285 RET Health Risk Pathogenic Sensorineural hearing loss disorder, Hirschsprung disease
RS1564497308 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1564497773 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1564497826 TSC1 Health Risk Pathogenic —
RS1564498330 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS1564499857 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1564500612 RET Health Risk Pathogenic Aganglionic megacolon, Multiple endocrine neoplasia
RS1564501791 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1564501934 RET Health Risk Pathogenic Aganglionic megacolon, Aganglionic megacolon
RS1564501944 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1564503320 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1564504869 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
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