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
RS61753252 TYR Health Risk Likely pathogenic —
RS61753253 TYR Health Risk Pathogenic/Likely pathogenic 6 conditions, SKIN/HAIR/EYE PIGMENTATION 3
RS61753254 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism
RS61753255 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS61753256 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS61753260 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, EXT1-related disorder
RS61753266 F10 Health Risk Conflicting classifications of pathogenicity Factor X deficiency, Abnormal bleeding
RS61753269 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS61753295 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS61753344 FMO3 Health Risk Pathogenic Trimethylaminuria, Trimethylaminuria
RS61753359 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H
RS61753381 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS61753432 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS61753468 MBD4 Health Risk Conflicting classifications of pathogenicity MBD4-related disorder, Inborn genetic diseases
RS61753526 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS61753527 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS61753580 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS61753611 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS61753681 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS61753717 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS61753720 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS61753770 MMP20 Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A2, Amelogenesis imperfecta hypomaturation type 2A2
RS61753795 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS61753865 FARP2 Health Risk Conflicting classifications of pathogenicity —
RS61753963 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS61753965 MECP2 Health Risk Pathogenic Rett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome
RS61753972 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61753978 MECP2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61753979 MECP2 Health Risk Pathogenic Rett syndrome, Intellectual disability
RS61753983 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 1, von Willebrand disease type 3
RS61753984 VWF Health Risk Pathogenic von Willebrand disease type 2, VWF-related disorder
RS61753988 VWF Health Risk Pathogenic von Willebrand disease type 2, von Willebrand disease type 3
RS61753991 VWF Health Risk Conflicting classifications of pathogenicity VWF-related disorder, VWF-related disorder
RS61753992 VWF Health Risk Pathogenic/Likely pathogenic Hereditary von Willebrand disease, von Willebrand disease type 1
RS61753994 VWF Health Risk Likely pathogenic von Willebrand disease type 3, Hereditary von Willebrand disease
RS61753997 VWF Health Risk Pathogenic/Likely pathogenic Hereditary von Willebrand disease, von Willebrand disease type 1
RS61753998 VWF Health Risk Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 2
RS61754000 VWF Health Risk Pathogenic von Willebrand disease type 3, Hereditary von Willebrand disease
RS61754002 VWF Health Risk Pathogenic von Willebrand disease type 2N, von Willebrand disease type 2N
RS61754003 VWF Health Risk Pathogenic von Willebrand disease type 3, VWF-related disorder
RS61754004 VWF Health Risk Pathogenic —
RS61754005 VWF Health Risk Pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS61754006 VWF Health Risk Likely pathogenic Von Willebrand disease type 2A, Von Willebrand disease type 2A
RS61754009 VWF Health Risk Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS61754010 VWF Health Risk Pathogenic Von Willebrand disease type 2A, von Willebrand disease type 2
RS61754011 VWF Health Risk Pathogenic Von Willebrand disease type 2A, Von Willebrand disease type 2A
RS61754019 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, von Willebrand disease type 3
RS61754024 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61754030 ABCA4 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, ABCA4-related disorder
RS61754033 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS61754044 ABCA4 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Retinal dystrophy
RS61754045 ABCA4 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy
RS61754048 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS61754054 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, ABCA4-related disorder
RS61754056 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Age related macular degeneration 2
RS61754061 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS61754098 ERCC8 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 1, Hereditary breast ovarian cancer syndrome
RS61754107 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS61754109 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS61754130 BICD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Neuronopathy
RS61754135 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS61754140 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS61754237 PPP1R12A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61754262 CYP17A1 Health Risk Likely pathogenic Congenital adrenal hyperplasia, Deficiency of steroid 17-alpha-monooxygenase
RS61754263 CYP17A1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 17-alpha-monooxygenase, CYP17A1-related disorder
RS61754264 CYP17A1 Health Risk Pathogenic —
RS61754278 CYP17A1 Health Risk Pathogenic 17, 20-lyase deficiency
RS61754285 SCFD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
RS61754301 PAX9 Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS61754360 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS61754361 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS61754362 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS61754364 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS61754365 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism
RS61754367 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS61754368 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS61754369 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS61754370 TYR Health Risk Likely pathogenic Inborn genetic diseases, Oculocutaneous albinism type 1A
RS61754371 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS61754374 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS61754375 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Nonsyndromic Oculocutaneous Albinism
RS61754380 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS61754381 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism
RS61754382 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS61754384 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS61754385 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS61754386 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS61754387 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism
RS61754388 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism
RS61754390 TYR Health Risk Pathogenic —
RS61754392 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Nonsyndromic Oculocutaneous Albinism
RS61754393 TYR Health Risk Pathogenic Temperature-sensitive oculocutaneous albinism type 1, Oculocutaneous albinism type 1B
RS61754398 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS61754399 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS61754402 PRPH2 Health Risk Conflicting classifications of pathogenicity PRPH2-related disorder, Retinitis pigmentosa
RS61754419 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61754421 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61754424 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61754425 MECP2 Health Risk Pathogenic Rett syndrome, Inborn genetic diseases
RS61754426 MECP2 Health Risk Pathogenic Rett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome
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