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
RS1060503666 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1060503667 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1060503669 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1060503670 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1060503671 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1060503672 ALS2 Health Risk Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1060503674 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1060503677 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, Lung cancer
RS1060503688 RPS19 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS1060503690 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1060503692 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS1060503696 KCNT1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 14
RS1060503706 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1060503711 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1060503726 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1060503727 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1060503728 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1060503731 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1060503732 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1060503733 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1060503735 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1060503737 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1060503739 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1060503743 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1060503744 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1060503748 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1060503750 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1060503751 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS1060503752 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS1060503753 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS1060503757 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS1060503759 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS1060503762 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS1060503763 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS1060503764 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS1060503767 SDHB Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS1060503768 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS1060503769 SDHD Health Risk Pathogenic Pheochromocytoma, Cowden syndrome 3
RS1060503770 SDHD Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome 3
RS1060503773 SDHD Health Risk Pathogenic/Likely pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 1
RS1060503780 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Malignant tumor of breast
RS1060503782 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1060503786 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1060503787 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1060503789 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1060503800 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1060503831 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1060503834 KCNJ5 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1060503838 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Brugada syndrome 8
RS1060503839 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1060503841 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1060503853 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS1060503855 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS1060503861 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS1060503869 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1060503901 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060503905 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060503909 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060503918 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060503922 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1060503924 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1060503941 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1060503946 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1060503950 TTN Health Risk Likely pathogenic —
RS1060503989 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS1060503990 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1060503994 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS1060503999 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS1060504002 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060504010 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060504016 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1060504025 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1060504026 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1060504028 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1060504029 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1060504064 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060504069 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1060504079 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS1060504084 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1060504095 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1060504116 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1060504119 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1060504137 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1060504143 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1060504144 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1060504147 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS1060504154 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS1060504160 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1060504161 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS1060504163 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS1060504172 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Malignant tumor of breast
RS1060504181 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1060504182 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1060504184 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1060504185 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1060504190 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1060504203 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1060504205 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS1060504206 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1060504219 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
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