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
RS2544206686 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2544207377 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2544207436 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544207517 FANCA Health Risk Likely pathogenic —
RS2544207520 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544207530 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544208806 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2544208862 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2544208884 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2544208887 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2544208923 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2544208945 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2544211248 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2544212758 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2544212791 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2544213172 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2544213697 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544213738 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544213873 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544213885 G6PC1 Health Risk Likely pathogenic —
RS2544214037 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2544214146 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2544214268 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2544214315 G6PC1 Health Risk Likely pathogenic Increased hepatic glycogen content, Increased hepatic glycogen content
RS2544214539 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS2544218247 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544218285 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544218340 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544218427 ANKRD11 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544218536 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544218793 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544218863 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544218927 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1
RS2544219177 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544219627 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544219631 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544219637 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544219769 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544219791 VPS33B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544219810 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544219937 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544220848 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544220921 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544221037 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544221196 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544221638 ANKRD11 Health Risk Pathogenic —
RS2544221896 ANKRD11 Health Risk Conflicting classifications of pathogenicity ANKRD11-related disorder, Inborn genetic diseases
RS2544222174 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544222373 ANKRD11 Health Risk Pathogenic ANKRD11-related disorder, ANKRD11-related disorder
RS2544223027 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544223064 ANKRD11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2544223241 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544223783 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544223937 ANKRD11 Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2544224333 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544224725 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544225934 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544225964 ANKRD11 Health Risk Likely pathogenic ANKRD11-related disorder, ANKRD11-related disorder
RS2544226185 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544226343 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544226349 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544226579 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544226758 ANKRD11 Health Risk Pathogenic —
RS2544227312 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544227368 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544227432 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544227565 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544227857 ANKRD11 Health Risk Pathogenic/Likely pathogenic See cases, KBG syndrome
RS2544227866 ANKRD11 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2544228051 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544229680 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544229925 VPS33B Health Risk Likely pathogenic Arthrogryposis, renal dysfunction
RS2544230049 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544230218 ANKRD11 Health Risk Pathogenic KBG syndrome, ANKRD11-related disorder
RS2544231225 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544231243 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544231298 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544231720 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544231831 ANKRD11 Health Risk Pathogenic —
RS2544231858 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, KBG syndrome
RS2544231997 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544232040 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS2544232260 FLCN Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Birt-Hogg-Dube syndrome
RS2544232305 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544232331 FLCN Health Risk Likely pathogenic —
RS2544233083 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544233197 ANKRD11 Health Risk Pathogenic —
RS2544233232 ANKRD11 Health Risk Pathogenic ANKRD11-related disorder, ANKRD11-related disorder
RS2544233287 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544233297 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544233416 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544233874 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2544234013 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544234065 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544234122 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544234184 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544234255 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, KBG syndrome
RS2544234611 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544234809 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544234832 VPS33B Health Risk Likely pathogenic Arthrogryposis, renal dysfunction
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