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
RS398124157 FGD1 Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, FGD1-related disorder
RS398124159 FGD1 Health Risk Conflicting classifications of pathogenicity —
RS398124160 FGD1 Health Risk Pathogenic —
RS398124161 FGD1 Health Risk Pathogenic —
RS398124162 FGD1 Health Risk Pathogenic —
RS398124166 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Wilms tumor 1
RS398124167 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS398124169 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS398124170 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, See cases
RS398124172 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS398124175 RPS6KA3 Health Risk Pathogenic —
RS398124177 RPS6KA3 Health Risk Pathogenic Coffin-Lowry syndrome, Inborn genetic diseases
RS398124178 RPS6KA3 Health Risk Pathogenic —
RS398124181 LARGE1 Health Risk Pathogenic —
RS398124182 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS398124183 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS398124185 LRAT Health Risk Pathogenic —
RS398124191 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS398124192 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS398124196 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome 1
RS398124197 MED12 Health Risk Conflicting classifications of pathogenicity —
RS398124198 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS398124199 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS398124201 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, Inborn genetic diseases
RS398124202 FOXG1;FOXG1-AS1;LINC01551 Health Risk Pathogenic/Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS398124204 FOXG1 Health Risk Pathogenic FOXG1 disorder, Inborn genetic diseases
RS398124206 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS398124208 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS398124209 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS398124210 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS398124211 SOX3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS398124220 RP1 Health Risk Pathogenic —
RS398124221 MOGS Health Risk Conflicting classifications of pathogenicity MOGS-congenital disorder of glycosylation, MOGS-congenital disorder of glycosylation
RS398124224 SLC9A6 Health Risk Pathogenic Christianson syndrome, Christianson syndrome
RS398124225 SEC23B Health Risk Pathogenic/Likely pathogenic Congenital dyserythropoietic anemia, type II
RS398124226 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS398124227 SEC23B Health Risk Conflicting classifications of pathogenicity —
RS398124229 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS398124230 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS398124231 SLC16A2 Health Risk Likely pathogenic —
RS398124232 SLC16A2 Health Risk Conflicting classifications of pathogenicity —
RS398124234 FTCD Health Risk Pathogenic/Likely pathogenic Glutamate formiminotransferase deficiency, Inborn genetic diseases
RS398124236 GJB6 Health Risk Pathogenic —
RS398124237 GJB6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1B, Autosomal recessive nonsyndromic hearing loss 1A
RS398124239 RP2 Health Risk Pathogenic —
RS398124241 ZIC2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 5, Holoprosencephaly 5
RS398124243 POMT1 Health Risk Likely pathogenic —
RS398124244 POMT1 Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS398124245 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS398124247 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS398124253 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS398124254 MLYCD Health Risk Pathogenic —
RS398124257 ATP6V0A2 Health Risk Pathogenic —
RS398124259 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS398124264 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS398124265 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS398124268 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS398124269 ACAD8 Health Risk Pathogenic —
RS398124274 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS398124275 ZEB2 Health Risk Pathogenic —
RS398124276 ZEB2 Health Risk Pathogenic —
RS398124277 ZEB2 Health Risk Pathogenic —
RS398124278 ZEB2 Health Risk Pathogenic —
RS398124280 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS398124281 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS398124282 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, See cases
RS398124283 ZEB2 Health Risk Pathogenic —
RS398124284 ZEB2 Health Risk Pathogenic —
RS398124287 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS398124289 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS398124292 MMACHC Health Risk Pathogenic Cobalamin C disease, Disorders of Intracellular Cobalamin Metabolism
RS398124294 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Cobalamin C disease
RS398124295 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS398124296 MMACHC Health Risk Pathogenic Cobalamin C disease, MMACHC-related disorder
RS398124297 OPA1 Health Risk Pathogenic —
RS398124298 OPA1 Health Risk Pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS398124299 OPA1 Health Risk Pathogenic Optic atrophy, Optic atrophy
RS398124300 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS398124301 OPA1 Health Risk Pathogenic —
RS398124303 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, Optic atrophy with or without deafness
RS398124307 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS398124308 FOXRED1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, Leigh syndrome
RS398124309 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS398124310 POMGNT1 Health Risk Pathogenic —
RS398124311 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS398124313 BCOR Health Risk Pathogenic —
RS398124315 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS398124317 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS398124319 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS398124320 CHD7 Health Risk Pathogenic —
RS398124321 CHD7 Health Risk Pathogenic CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS398124322 CHD7 Health Risk Pathogenic —
RS398124323 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS398124324 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS398124330 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS398124333 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS398124339 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS398124341 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS398124343 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS398124345 SLC35C1 Health Risk Pathogenic Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
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