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
RS2512706092 BRD4 Health Risk Likely pathogenic Cornelia de Lange-like syndrome, Cornelia de Lange-like syndrome
RS2512706203 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512706226 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512707857 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512707947 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512708025 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512711110 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512711277 STXBP2 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512711496 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512711994 BRD4 Health Risk Pathogenic Cornelia de Lange syndrome 6, Cornelia de Lange syndrome 6
RS2512715110 STXBP2 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS2512719998 ACP5 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS2512725836 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS2512725950 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS2512728377 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS2512732542 ADGRL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2512740601 CPAMD8 Health Risk Likely pathogenic CPAMD8-related disorder, CPAMD8-related disorder
RS2512740838 CACNA1A Health Risk Likely pathogenic Migraine, familial hemiplegic
RS2512741435 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512742281 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2512742400 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2512742471 NFIX Health Risk Pathogenic —
RS2512742855 NFIX Health Risk Likely pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2512743108 IQCN Health Risk Likely pathogenic Spermatogenic failure 78, Spermatogenic failure 78
RS2512743361 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2512743861 NFIX Health Risk Likely pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2512744292 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2512744423 NFIX Health Risk Likely pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2512744631 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Marshall-Smith syndrome
RS2512744647 NFIX Health Risk Likely pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2512745114 RAB11B Health Risk Likely pathogenic Neurodevelopmental disorder with ataxic gait, absent speech
RS2512745237 NFIX Health Risk Pathogenic/Likely pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2512745517 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2512745631 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2512745827 NFIX Health Risk Likely pathogenic —
RS2512746397 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2512746482 NFIX Health Risk Likely pathogenic —
RS2512746910 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Malan overgrowth syndrome
RS2512747409 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Malan overgrowth syndrome
RS2512747813 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Malan overgrowth syndrome
RS2512747986 RAB11B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with ataxic gait, absent speech
RS2512751813 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2512751850 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2512753517 TUBB4A Health Risk Pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS2512753619 TUBB4A Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS2512754463 TUBB4A Health Risk Conflicting classifications of pathogenicity —
RS2512754593 TUBB4A Health Risk Likely pathogenic Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS2512754738 TUBB4A Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS2512759124 CACNA1A Health Risk Likely pathogenic —
RS2512759168 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS2512759230 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2512759285 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512759377 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512759522 CACNA1A;LOC126862864 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, language delay
RS2512759551 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512763520 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2512763658 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512763792 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS2512766503 ADGRL1 Health Risk Pathogenic Developmental delay, behavioral abnormalities
RS2512773026 TCF4 Health Risk Pathogenic —
RS2512773797 TCF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2512776550 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2512793715 RFXANK Health Risk Pathogenic MHC class II deficiency 2, MHC class II deficiency 2
RS2512795443 REEP6 Health Risk Pathogenic —
RS2512807049 REEP6 Health Risk Pathogenic —
RS2512810683 CACNA1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2512810715 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512813276 RFXANK Health Risk Likely pathogenic RFXANK-related disorder, RFXANK-related disorder
RS2512815145 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2512815753 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2512816590 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512827446 ADGRL1 Health Risk Pathogenic Developmental delay, behavioral abnormalities
RS2512840904 CACNA1A Health Risk Pathogenic —
RS2512847037 COMP Health Risk Pathogenic —
RS2512847056 COMP Health Risk Likely pathogenic —
RS2512847096 COMP Health Risk Pathogenic —
RS2512847503 COMP Health Risk Pathogenic —
RS2512847519 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2512847535 COMP Health Risk Pathogenic —
RS2512847573 COMP Health Risk Pathogenic —
RS2512847579 COMP Health Risk Likely pathogenic —
RS2512847626 COMP Health Risk Likely pathogenic —
RS2512847668 COMP Health Risk Likely pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS2512847828 COMP Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia type 1
RS2512848341 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512848451 COMP Health Risk Pathogenic —
RS2512850157 COMP Health Risk Likely pathogenic —
RS2512850209 COMP Health Risk Pathogenic —
RS2512855822 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512857473 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS2512857978 CACNA1A Health Risk Pathogenic —
RS2512858136 CACNA1A Health Risk Likely pathogenic Seizure, Seizure
RS2512858290 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS2512858528 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS2512878284 COLGALT1 Health Risk Pathogenic —
RS2512889135 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS2512890062 RNASEH2A Health Risk Likely pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS2512890193 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS2512892954 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS2512904399 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Episodic ataxia type 2
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