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
RS2495140482 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2495140844 PCDH15 Health Risk Pathogenic —
RS2495149011 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2495153923 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495155336 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495160136 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495166674 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS2495167615 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2495176679 PAX6 Health Risk Likely pathogenic Irido-corneo-trabecular dysgenesis, Irido-corneo-trabecular dysgenesis
RS2495180066 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS2495181137 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS2495184504 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495187032 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495194878 PTPRJ Health Risk Pathogenic Thrombocytopenia 10, Thrombocytopenia 10
RS2495222321 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495223270 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495225078 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495225308 FAS Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495225676 FAS Health Risk Likely pathogenic —
RS2495225911 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495226256 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495227180 FAS Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495228618 FAS Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS2495230982 PACS1 Health Risk Likely pathogenic Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS2495260613 TMEM151A Health Risk Pathogenic Episodic kinesigenic dyskinesia 3, Episodic kinesigenic dyskinesia 3
RS2495260968 TMEM151A Health Risk Pathogenic Episodic kinesigenic dyskinesia 3, Episodic kinesigenic dyskinesia 3
RS2495261382 TMEM151A Health Risk Pathogenic Episodic kinesigenic dyskinesia 3, Episodic kinesigenic dyskinesia 3
RS2495261927 TMEM151A Health Risk Pathogenic Episodic kinesigenic dyskinesia 3, Episodic kinesigenic dyskinesia 3
RS2495273817 CTSF Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2495276170 CTSF Health Risk Pathogenic Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13
RS2495284476 CTSF Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2495286249 CTSF Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2495288342 PIDD1 Health Risk Pathogenic —
RS2495296956 PAX6 Health Risk Likely pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS2495305792 KMT5B Health Risk Likely pathogenic —
RS2495306873 KMT5B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 51
RS2495317090 TOP6BL Health Risk Likely pathogenic Hydatidiform mole, recurrent
RS2495319114 ANXA7 Health Risk Likely pathogenic —
RS2495319282 PAX6 Health Risk Pathogenic Irido-corneo-trabecular dysgenesis, Aniridia 1
RS2495327532 COL4A1 Health Risk Pathogenic —
RS2495347646 KMT5B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 51
RS2495347764 KMT5B Health Risk Likely pathogenic —
RS2495348905 KMT5B Health Risk Likely pathogenic —
RS2495369149 MICU1 Health Risk Pathogenic —
RS2495369415 MICU1 Health Risk Pathogenic —
RS2495370637 MICU1 Health Risk Likely pathogenic Proximal myopathy with extrapyramidal signs, Proximal myopathy with extrapyramidal signs
RS2495378431 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495380515 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495380745 PGAP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 3
RS2495382261 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495384629 B4GAT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
RS2495387711 AIP Health Risk Pathogenic —
RS2495388599 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495391310 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495396380 AIP Health Risk Pathogenic —
RS2495399241 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495399570 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495400122 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495400851 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495401264 AIP Health Risk Likely pathogenic Somatotroph adenoma, Somatotroph adenoma
RS2495401265 PC Health Risk Pathogenic/Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495401581 AIP Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2495401766 AIP Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2495404851 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495404901 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2495405101 AIP Health Risk Pathogenic —
RS2495405147 AIP Health Risk Pathogenic/Likely pathogenic Somatotroph adenoma, Somatotroph adenoma
RS2495405821 AIP Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2495406056 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495406063 DPF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2495406855 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495407169 DPF2 Health Risk Likely pathogenic Coffin-Siris syndrome 7, Coffin-Siris syndrome 7
RS2495407485 AIP Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2495409667 AIP Health Risk Pathogenic —
RS2495409867 AIP Health Risk Likely pathogenic Somatotroph adenoma, Somatotroph adenoma
RS2495410101 AIP Health Risk Pathogenic —
RS2495410373 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495411828 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495413658 DPF2 Health Risk Conflicting classifications of pathogenicity —
RS2495413705 DPF2 Health Risk Likely pathogenic Coffin-Siris syndrome 7, Coffin-Siris syndrome 7
RS2495413781 DPF2 Health Risk Conflicting classifications of pathogenicity —
RS2495414125 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495416125 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495420847 SERPING1 Health Risk Likely pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS2495420852 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS2495420943 SERPING1 Health Risk Pathogenic —
RS2495421098 SERPING1 Health Risk Likely pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS2495421134 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS2495421197 SERPING1 Health Risk Likely pathogenic Inborn genetic diseases, Hereditary angioedema type 1
RS2495421234 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495421429 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495424954 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS2495425144 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS2495425169 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS2495425174 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS2495425264 SERPING1 Health Risk Pathogenic Angioedema, Angioedema
RS2495425553 SERPING1 Health Risk Pathogenic —
RS2495425632 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2495425731 SERPING1 Health Risk Pathogenic —
RS2495426038 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
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