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
RS2116382630 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS2116383424 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS2116384132 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2116384200 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Citrullinemia
RS2116384455 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2116384695 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2116384782 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS2116397821 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS2116397860 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS2116402799 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS2116403812 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116406254 ABCB4 Health Risk Pathogenic —
RS2116407521 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116407816 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116411134 TRRAP Health Risk Likely pathogenic Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS2116412345 SAMD9 Health Risk Conflicting classifications of pathogenicity SAMD9-related disorder, SAMD9-related disorder
RS2116413904 EPHB4 Health Risk Pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS2116413948 EPHB4 Health Risk Pathogenic Arteriovenous malformation, Arteriovenous malformation
RS2116414460 EPHB4 Health Risk Likely pathogenic —
RS2116414744 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116415082 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116415261 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116415268 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116415497 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2116416678 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS2116417034 SAMD9 Health Risk Likely pathogenic —
RS2116417794 SAMD9 Health Risk Likely pathogenic —
RS2116418899 SAMD9 Health Risk Likely pathogenic —
RS2116420330 PCLO Health Risk Pathogenic —
RS2116421906 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116422065 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116426311 SLC25A13 Health Risk Pathogenic Citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency
RS2116431583 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS2116431707 EPHB4 Health Risk Pathogenic Hereditary lymphedema type I, Hereditary lymphedema type I
RS2116431816 EPHB4 Health Risk Pathogenic —
RS2116432544 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS2116432568 EPHB4 Health Risk Likely pathogenic —
RS2116434296 EPHB4 Health Risk Pathogenic/Likely pathogenic Capillary malformation-arteriovenous malformation 2, Lymphatic malformation 7
RS2116434413 EPHB4 Health Risk Likely pathogenic —
RS2116435260 EPHB4 Health Risk Pathogenic/Likely pathogenic EPHB4-related disorder, EPHB4-related disorder
RS2116435454 PCLO Health Risk Pathogenic —
RS2116438660 PCLO Health Risk Pathogenic —
RS2116443777 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS2116443784 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116443901 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116444559 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116444583 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116449991 EPHB4 Health Risk association Vein of Galen aneurysmal malformation, Vein of Galen aneurysmal malformation
RS2116450530 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS2116451858 EPHB4 Health Risk Pathogenic —
RS2116458223 EPHB4 Health Risk Pathogenic —
RS2116460981 POT1 Health Risk Likely pathogenic —
RS2116461581 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116461878 EPHB4 Health Risk Pathogenic EPHB4-related disorder, EPHB4-related disorder
RS2116461987 EPHB4 Health Risk Pathogenic —
RS2116462820 EPHB4 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS2116463248 ABCB4 Health Risk Pathogenic —
RS2116467712 SAMD9L Health Risk Likely pathogenic Monosomy 7 myelodysplasia and leukemia syndrome 1, Monosomy 7 myelodysplasia and leukemia syndrome 1
RS2116469012 SAMD9L Health Risk Pathogenic —
RS2116474071 EPHB4 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS2116481274 SLC25A13 Health Risk Likely pathogenic Citrin deficiency, Citrin deficiency
RS2116482158 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2116485921 SAMD9L Health Risk Likely pathogenic —
RS2116486108 SAMD9L Health Risk Likely pathogenic interferonopathy, interferonopathy
RS2116495090 TRRAP Health Risk Likely pathogenic —
RS2116495128 TRRAP Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2116495143 TRRAP Health Risk Pathogenic/Likely pathogenic Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS2116495297 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS2116500720 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116500730 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116501128 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116504255 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116504536 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116504827 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Long telomere syndrome
RS2116504894 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116505095 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116505279 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116505365 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116505374 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116505401 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116506727 SAMD9L Health Risk Likely pathogenic Monosomy 7 myelodysplasia and leukemia syndrome 1, Monosomy 7 myelodysplasia and leukemia syndrome 1
RS2116509058 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS2116509105 TRRAP Health Risk Likely pathogenic Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS2116512210 TRRAP Health Risk Likely pathogenic Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS2116525031 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116525148 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS2116525878 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116526207 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116526253 POT1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2116526346 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116526564 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116541623 POT1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2116542157 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Long telomere syndrome
RS2116542410 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116542675 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS2116567355 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS2116567603 POT1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2116568066 SGCE Health Risk Pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS2116574924 POU6F2 Health Risk Pathogenic Wilms tumor 5, Wilms tumor 5
RS2116581086 GIMAP5 Health Risk Pathogenic/Likely pathogenic Portal hypertension, noncirrhotic
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