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
RS2539896387 TMEM216 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2539896401 TMEM216 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2539896547 TMEM216 Health Risk Likely pathogenic Joubert syndrome 2, Joubert syndrome 2
RS2539896601 TMEM216 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2539896690 TMEM216 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2539897956 HKDC1 Health Risk Likely pathogenic Retinitis pigmentosa 92, Retinitis pigmentosa 92
RS2539900762 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS2539901907 PCDH15 Health Risk Pathogenic —
RS2539902540 PCDH15 Health Risk Likely pathogenic —
RS2539906008 ZMYND11 Health Risk Pathogenic Intellectual disability, autosomal dominant 30
RS2539906042 ZMYND11 Health Risk Pathogenic —
RS2539909801 LRRC56 Health Risk Likely pathogenic —
RS2539918923 HKDC1 Health Risk Likely pathogenic Retinitis pigmentosa 92, Retinitis pigmentosa 92
RS2539919317 KIRREL3 Health Risk Likely pathogenic —
RS2539921362 LRRC56 Health Risk Pathogenic —
RS2539928316 LRRC56 Health Risk Likely pathogenic —
RS2539929475 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2539931430 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539931796 PCDH15 Health Risk Pathogenic —
RS2539932445 LRRC56 Health Risk Pathogenic —
RS2539933089 LRRC56 Health Risk Pathogenic —
RS2539939984 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS2539945228 PTPRO Health Risk Pathogenic —
RS2539962892 PTHLH Health Risk Pathogenic —
RS2539963351 VDR Health Risk Pathogenic —
RS2539965571 VDR Health Risk Pathogenic —
RS2539969091 VDR Health Risk Likely pathogenic —
RS2539969247 VDR Health Risk Pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS2539971705 PTHLH Health Risk Likely pathogenic —
RS2539971709 PTHLH Health Risk Likely pathogenic —
RS2539985015 VDR Health Risk Pathogenic —
RS2539985441 FKTN Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS2539990210 PTPRO Health Risk Pathogenic —
RS2539996264 VDR Health Risk Pathogenic —
RS2540002344 RDH5 Health Risk Pathogenic —
RS2540004166 RDH5 Health Risk Pathogenic —
RS2540004249 RDH5 Health Risk Likely pathogenic —
RS2540007941 ZMYND11 Health Risk Conflicting classifications of pathogenicity —
RS2540008595 ZMYND11 Health Risk Pathogenic —
RS2540008767 ZMYND11 Health Risk Pathogenic Intellectual disability, autosomal dominant 30
RS2540009501 ZMYND11 Health Risk Likely pathogenic ZMYND11-related disorder, ZMYND11-related disorder
RS2540011572 PCDH15 Health Risk Pathogenic —
RS2540011642 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2540012395 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1F
RS2540017090 VDR Health Risk Likely pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS2540017785 VDR Health Risk Likely pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS2540023102 ZMYND11 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 30
RS2540040198 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2540040738 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS2540043491 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS2540044081 ZMYND11 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS2540044767 TMEM38B Health Risk Pathogenic —
RS2540045622 TMEM38B Health Risk Likely pathogenic Osteogenesis imperfecta type 14, Osteogenesis imperfecta type 14
RS2540045854 ZMYND11 Health Risk Pathogenic —
RS2540045968 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS2540046247 ZMYND11 Health Risk Pathogenic Intellectual disability, autosomal dominant 30
RS2540049055 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, Crouzon syndrome
RS2540049261 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS2540056456 ZMYND11 Health Risk Pathogenic Intellectual disability, autosomal dominant 30
RS2540059310 ZMYND11 Health Risk Likely pathogenic —
RS2540060643 HOGA1 Health Risk Pathogenic —
RS2540060652 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS2540060692 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS2540060695 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS2540072817 VAMP1 Health Risk Likely pathogenic Spastic ataxia 1, Spastic ataxia 1
RS2540074052 HOGA1 Health Risk Pathogenic —
RS2540074585 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS2540074927 HOGA1 Health Risk Likely pathogenic —
RS2540075778 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS2540078331 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS2540086673 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS2540086681 HOGA1 Health Risk Pathogenic —
RS2540086855 HOGA1 Health Risk Likely pathogenic —
RS2540091081 COL2A1 Health Risk Pathogenic —
RS2540091565 COL2A1 Health Risk Likely pathogenic Achondrogenesis type II, Achondrogenesis type II
RS2540091768 COL2A1 Health Risk Pathogenic —
RS2540092140 LPL Health Risk Likely pathogenic —
RS2540092267 LPL Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540092337 LPL Health Risk Likely pathogenic —
RS2540094178 COL2A1 Health Risk Pathogenic —
RS2540094531 COL2A1 Health Risk Pathogenic —
RS2540094630 COL2A1 Health Risk Pathogenic —
RS2540094635 COL2A1 Health Risk Pathogenic —
RS2540094660 COL2A1 Health Risk Pathogenic See cases, See cases
RS2540094982 COL2A1 Health Risk Pathogenic —
RS2540095140 COL2A1 Health Risk Pathogenic —
RS2540095238 COL2A1 Health Risk Pathogenic —
RS2540095473 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS2540096951 COL2A1 Health Risk Pathogenic —
RS2540097262 COL2A1 Health Risk Pathogenic —
RS2540097285 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS2540097499 COL2A1 Health Risk Pathogenic —
RS2540097518 COL2A1 Health Risk Pathogenic —
RS2540097718 COL2A1 Health Risk Pathogenic COL2A1-related disorder, COL2A1-related disorder
RS2540097776 COL2A1 Health Risk Likely pathogenic —
RS2540097812 COL2A1 Health Risk Pathogenic —
RS2540099804 LPL Health Risk Pathogenic —
RS2540099807 COL2A1 Health Risk Pathogenic —
RS2540099833 LPL Health Risk Pathogenic —
RS2540100393 COL2A1 Health Risk Pathogenic —
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