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
RS1064794722 NALCN Health Risk Conflicting classifications of pathogenicity —
RS1064794724 GABRG2 Health Risk Likely pathogenic —
RS1064794725 ATP1A2 Health Risk Pathogenic/Likely pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS1064794727 SCN8A Health Risk Pathogenic/Likely pathogenic Seizures, benign familial infantile
RS1064794728 C7 Health Risk Likely pathogenic —
RS1064794730 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1064794733 KDM5C Health Risk Conflicting classifications of pathogenicity KDM5C-related disorder, KDM5C-related disorder
RS1064794734 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS1064794735 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1064794737 GLB1 Health Risk Likely pathogenic —
RS1064794738 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS1064794744 WDR45 Health Risk Likely pathogenic —
RS1064794745 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064794748 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064794750 RBFOX1 Health Risk Likely pathogenic —
RS1064794751 SETD2 Health Risk Likely pathogenic —
RS1064794752 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1064794753 RYR2 Health Risk Likely pathogenic —
RS1064794754 TTN Health Risk Likely pathogenic —
RS1064794755 TRMU Health Risk Likely pathogenic —
RS1064794756 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1064794760 TSC1 Health Risk Pathogenic —
RS1064794762 PCDH19 Health Risk Likely pathogenic —
RS1064794763 PCDH19 Health Risk Conflicting classifications of pathogenicity —
RS1064794764 KCNB1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1064794765 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1064794766 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1064794773 DNM1 Health Risk Likely pathogenic —
RS1064794774 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1064794777 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS1064794779 ABCC9 Health Risk Likely pathogenic —
RS1064794780 ABCC9 Health Risk Likely pathogenic —
RS1064794781 PCDH19 Health Risk Likely pathogenic —
RS1064794782 SCN8A Health Risk Likely pathogenic —
RS1064794783 SQSTM1 Health Risk Likely pathogenic SQSTM1-related disorder, SQSTM1-related disorder
RS1064794784 SLC25A1 Health Risk Likely pathogenic —
RS1064794786 HERC1 Health Risk Likely pathogenic —
RS1064794787 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064794789 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1064794791 ACVRL1 Health Risk Likely pathogenic —
RS1064794793 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Cardiovascular phenotype
RS1064794796 FBN1 Health Risk Likely pathogenic —
RS1064794797 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS1064794798 CC2D2A Health Risk Conflicting classifications of pathogenicity —
RS1064794799 ARID1B Health Risk Likely pathogenic —
RS1064794800 CUL4B Health Risk Likely pathogenic —
RS1064794805 STK11 Health Risk Likely pathogenic —
RS1064794808 CACNA1A Health Risk Pathogenic Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1064794809 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064794810 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1064794812 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064794815 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS1064794817 KCNH1 Health Risk Likely pathogenic —
RS1064794819 PRDM5 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, PRDM5-related disorder
RS1064794820 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064794821 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064794823 HNRNPU Health Risk Pathogenic —
RS1064794825 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1064794826 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064794828 DNM1 Health Risk Likely pathogenic —
RS1064794835 NDUFAF3 Health Risk Likely pathogenic —
RS1064794836 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS1064794837 CHD2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1064794840 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064794841 NFIA Health Risk Pathogenic/Likely pathogenic Chromosome 1p32-p31 deletion syndrome, Brain malformations with or without urinary tract defects
RS1064794843 ARX Health Risk Pathogenic/Likely pathogenic Corpus callosum agenesis-abnormal genitalia syndrome, Corpus callosum agenesis-abnormal genitalia syndrome
RS1064794845 RYR1 Health Risk Likely pathogenic —
RS1064794848 HK1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with visual defects and brain anomalies, Retinitis pigmentosa
RS1064794849 PHEX Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS1064794850 CD19 Health Risk Likely pathogenic —
RS1064794853 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1064794854 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1064794856 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1064794858 CACNA1A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 42
RS1064794861 PIGL Health Risk Likely pathogenic —
RS1064794863 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1064794864 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064794867 WAC Health Risk Pathogenic —
RS1064794869 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1064794870 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064794877 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064794881 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064794882 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1064794883 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1064794885 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064794886 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1064794890 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1064794894 DYRK1A Health Risk Pathogenic/Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1064794895 KCND3 Health Risk Conflicting classifications of pathogenicity —
RS1064794899 STAT3 Health Risk Likely pathogenic —
RS1064794901 SMS Health Risk Likely pathogenic —
RS1064794903 DNM1 Health Risk Likely pathogenic —
RS1064794904 BTK Health Risk Likely pathogenic —
RS1064794905 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064794906 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064794910 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064794912 GJC2 Health Risk Likely pathogenic —
RS1064794913 SCN1A Health Risk Likely pathogenic —
RS1064794916 PUF60 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 8q24.3 microdeletion syndrome
RS1064794917 DEPDC5 Health Risk Likely pathogenic —
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