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
RS587783241 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS587783242 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS587783245 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783246 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS587783247 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783248 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783258 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783259 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS587783260 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS587783261 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS587783262 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS587783263 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS587783265 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS587783268 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783269 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783272 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783275 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783276 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS587783277 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS587783278 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783280 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS587783281 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS587783282 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783283 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783285 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783287 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783288 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783289 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783292 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS587783295 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783299 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Inborn genetic diseases
RS587783301 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS587783306 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS587783307 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS587783309 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS587783314 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS587783315 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS587783317 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS587783318 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS587783328 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS587783340 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS587783343 BIN1 Health Risk Pathogenic Myopathy, centronuclear
RS587783357 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS587783358 CASK Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS587783360 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS587783361 CASK Health Risk Pathogenic/Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS587783362 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS587783364 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS587783366 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS587783367 CASK Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS587783368 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS587783369 CASK Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Najm type, FG syndrome 4
RS587783370 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Intellectual disability
RS587783371 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS587783377 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587783379 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS587783383 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS587783387 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS587783390 CDK5RAP2 Health Risk Pathogenic/Likely pathogenic Microcephaly 3, primary
RS587783391 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS587783392 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS587783393 CDK5RAP2 Health Risk Pathogenic Microcephaly 3, primary
RS587783396 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS587783398 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS587783399 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS587783401 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS587783405 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS587783406 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS587783410 CPAP Health Risk Pathogenic Microcephaly 6, primary
RS587783414 CEP152 Health Risk Pathogenic Microcephaly 9, primary
RS587783415 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS587783417 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS587783418 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS587783421 CEP152 Health Risk Pathogenic Microcephaly 9, primary
RS587783423 CEP152 Health Risk Pathogenic/Likely pathogenic Microcephaly 9, primary
RS587783424 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS587783428 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS587783429 CHD7 Health Risk Pathogenic CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS587783430 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS587783431 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS587783432 CHD7 Health Risk Likely pathogenic CHARGE syndrome, Inborn genetic diseases
RS587783433 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS587783434 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS587783435 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS587783436 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS587783439 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS587783440 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS587783441 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS587783442 CHD7 Health Risk Pathogenic CHARGE syndrome, Inborn genetic diseases
RS587783443 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS587783445 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS587783446 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS587783447 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS587783448 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS587783449 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS587783450 CHD7 Health Risk Pathogenic CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS587783451 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS587783454 CHD7 Health Risk Pathogenic CHARGE syndrome, CHD7-related disorder
RS587783455 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS587783456 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
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