SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1131692212 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692213 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1131692214 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692215 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692216 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1131692217 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692219 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692220 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692221 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692222 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1131692223 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Hypercholesterolemia
RS1131692224 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692225 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692226 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1131692227 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS1131692228 ACTL6B Health Risk Likely pathogenic Intellectual developmental disorder with severe speech and ambulation defects, Autism
RS1131692230 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1131692231 CYFIP2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 65
RS1131692232 PUF60 Health Risk Pathogenic/Likely pathogenic 8q24.3 microdeletion syndrome, Inborn genetic diseases
RS1131692233 KIF5A Health Risk Likely pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS1131692234 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Spermatogenic failure 18
RS1131692235 SGPL1 Health Risk Pathogenic Nephrotic syndrome 14, Nephrotic syndrome 14
RS1131692237 ERBB2 Health Risk Pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS1131692238 CDK12 Health Risk Likely pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS1131692243 PIK3R1 Health Risk Pathogenic Vascular Malformations and Overgrowth, Vascular Malformations and Overgrowth
RS1131692245 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1131692246 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1131692247 MYMK Health Risk Pathogenic Congenital nonprogressive myopathy with Moebius and Robin sequences, Congenital nonprogressive myopathy with Moebius and Robin sequences
RS1131692248 MYMK Health Risk Pathogenic Congenital nonprogressive myopathy with Moebius and Robin sequences, Congenital nonprogressive myopathy with Moebius and Robin sequences
RS1131692249 MYMK Health Risk Pathogenic Congenital nonprogressive myopathy with Moebius and Robin sequences, Congenital nonprogressive myopathy with Moebius and Robin sequences
RS1131692250 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Spermatogenic failure 18
RS1131692251 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Spermatogenic failure 18
RS1131692252 SGPL1 Health Risk Pathogenic Nephrotic syndrome 14, Nephrotic syndrome 14
RS1131692253 SGPL1 Health Risk Pathogenic Nephrotic syndrome 14, Nephrotic syndrome 14
RS1131692254 SGPL1 Health Risk Pathogenic Nephrotic syndrome 14, Nephrotic syndrome 14
RS1131692255 SGPL1 Health Risk Pathogenic Nephrotic syndrome 14, Nephrotic syndrome 14
RS1131692256 SGPL1 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome 14, Nephrotic syndrome
RS1131692258 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS1131692259 EBF3 Health Risk Pathogenic —
RS1131692260 EBF3 Health Risk Likely pathogenic —
RS1131692261 EBF3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Hypotonia
RS1131692262 EBF3 Health Risk Likely pathogenic —
RS1131692263 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1131692266 CFAP43 Health Risk Pathogenic Spermatogenic failure 19, Spermatogenic failure 19
RS1131692268 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1131692269 WDFY3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental delay, Neurodevelopmental delay
RS1131692270 POGZ Health Risk Conflicting classifications of pathogenicity Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1131692272 AFF3 Health Risk Pathogenic KINSSHIP syndrome, Inborn genetic diseases
RS1131692274 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1131692279 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS1131692280 PKD2 Health Risk Pathogenic/Likely pathogenic Autosomal dominant polycystic kidney disease, Inborn genetic diseases
RS1131692282 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1131692284 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1131692285 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692286 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1131692287 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692289 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1131692290 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692291 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1131692292 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1131692293 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1131692294 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1131692295 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692296 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692297 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1131692298 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692299 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692300 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692301 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692302 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692303 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692304 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1131692305 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692306 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692307 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692308 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1131692309 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1131692310 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692312 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692313 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692314 PAX6 Health Risk Pathogenic Aniridia 1, Irido-corneo-trabecular dysgenesis
RS1131692315 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692316 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS1131692317 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692318 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692319 PAX6 Health Risk Pathogenic Aniridia 1, Aniridia 1
RS1131692320 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type III, Osteogenesis imperfecta type III
RS1131692325 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1131692326 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, COL1A1-related disorder
RS1131692327 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome 2
RS1131692328 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1131692330 TRIP13 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 3, Mosaic variegated aneuploidy syndrome 3
RS1131692331 SLC30A9 Health Risk Pathogenic Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
RS1131692332 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS1131692333 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS1131695 JAG1 Health Risk Pathogenic —
RS113170280 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113173389 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS113174390 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS113178142 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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