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
RS1057524139 RERE Health Risk Likely pathogenic —
RS1057524140 PGK1 Health Risk Likely pathogenic —
RS1057524142 EHMT1 Health Risk Pathogenic —
RS1057524147 TLK2 Health Risk Likely pathogenic —
RS1057524152 FOXP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Inborn genetic diseases
RS1057524153 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1057524155 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1057524157 DEAF1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 24
RS1057524158 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1057524160 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1057524163 COL5A2 Health Risk Likely pathogenic —
RS1057524164 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1057524165 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1057524171 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1057524176 SLC26A4 Health Risk Pathogenic —
RS1057524183 NARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS1057524191 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS1057524192 TBC1D24 Health Risk Likely pathogenic TBC1D24-related disorder, Autosomal dominant nonsyndromic hearing loss 65
RS1057524193 KIF5A Health Risk Pathogenic Hereditary spastic paraplegia 10, Myoclonus
RS1057524195 KAT6A Health Risk Pathogenic —
RS1057524203 DST Health Risk Pathogenic —
RS1057524205 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1057524208 SMARCA4 Health Risk Likely pathogenic —
RS1057524217 MED12 Health Risk Likely pathogenic Nonspecific Intellectual Disability, Nonspecific Intellectual Disability
RS1057524233 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Epilepsy
RS1057524234 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS1057524237 COL11A1 Health Risk Conflicting classifications of pathogenicity Marshall syndrome, Marshall syndrome
RS1057524239 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Dilated cardiomyopathy 1NN
RS1057524241 KAT6B Health Risk Pathogenic —
RS1057524248 USP9X Health Risk Pathogenic —
RS1057524250 PLOD2 Health Risk Likely pathogenic —
RS1057524251 PLOD2 Health Risk Pathogenic —
RS1057524256 PIGA Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 2, Inborn genetic diseases
RS1057524257 IFIH1 Health Risk Likely pathogenic —
RS1057524261 PDP1 Health Risk Likely pathogenic —
RS1057524265 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS1057524290 SCN4A Health Risk Likely pathogenic —
RS1057524291 DMD Health Risk Likely pathogenic —
RS1057524293 DIAPH1 Health Risk Pathogenic —
RS1057524298 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1057524302 HECW2 Health Risk Likely pathogenic —
RS1057524307 ELOVL4 Health Risk Pathogenic —
RS1057524308 GATAD2B Health Risk Pathogenic —
RS1057524314 RPS6KA3 Health Risk Pathogenic —
RS1057524317 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1057524339 CHD8 Health Risk Pathogenic Glioma susceptibility 1, Glioma susceptibility 1
RS1057524340 KAT6A Health Risk Pathogenic —
RS1057524341 MED13L Health Risk Pathogenic —
RS1057524343 TBL1XR1 Health Risk Pathogenic Pierpont syndrome, Pierpont syndrome
RS1057524355 ALS2 Health Risk Likely pathogenic —
RS1057524364 DARS2 Health Risk Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1057524366 MPV17 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
RS1057524378 FLNA Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS1057524379 HDAC8 Health Risk Likely pathogenic —
RS1057524385 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS1057524391 ARID2 Health Risk Pathogenic —
RS1057524392 GRIN2B Health Risk Pathogenic —
RS1057524393 RPS6KA3 Health Risk Likely pathogenic —
RS1057524398 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1057524408 NONO Health Risk Pathogenic —
RS1057524415 GABRB3 Health Risk Pathogenic/Likely pathogenic Epilepsy, childhood absence
RS1057524419 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1057524426 IGF1R Health Risk Pathogenic —
RS1057524427 NIPBL Health Risk Likely pathogenic —
RS1057524433 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1057524434 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS1057524439 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1057524442 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS1057524444 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1057524447 SCN5A Health Risk Likely pathogenic Cervical cancer, Cervical cancer
RS1057524458 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1057524460 PYCR1 Health Risk Likely pathogenic —
RS1057524466 FOXN1 Health Risk Likely pathogenic T-cell immunodeficiency, congenital alopecia
RS1057524468 CAPN3 Health Risk Likely pathogenic Muscular dystrophy, limb-girdle
RS1057524473 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS1057524476 SPINK5 Health Risk Pathogenic —
RS1057524479 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS1057524482 WAC Health Risk Pathogenic/Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS1057524483 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS1057524485 CASK Health Risk Pathogenic —
RS1057524490 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS1057524497 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1057524499 GAMT Health Risk Likely pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS1057524501 CHD7 Health Risk Pathogenic —
RS1057524504 PNPO Health Risk Likely pathogenic —
RS1057524506 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1057524508 UBE3A Health Risk Likely pathogenic —
RS1057524509 TCF12 Health Risk Likely pathogenic —
RS1057524511 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1057524512 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1057524526 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS1057524546 FGFR1 Health Risk Conflicting classifications of pathogenicity Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1057524547 COL1A1 Health Risk Pathogenic —
RS1057524549 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1057524557 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1057524559 SMARCA4 Health Risk Likely pathogenic —
RS1057524560 HUWE1 Health Risk Likely pathogenic —
RS1057524561 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS1057524563 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1057524571 MEN1 Health Risk Likely pathogenic —
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