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
RS2544389456 KIAA0753 Health Risk Pathogenic —
RS2544389543 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2544389679 ACTG1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS2544389682 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544389713 ACTG1 Health Risk Likely pathogenic —
RS2544389796 KIAA0753 Health Risk Likely pathogenic —
RS2544389952 DNAH9 Health Risk Pathogenic —
RS2544389996 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2544390077 ALDH3A2 Health Risk Pathogenic —
RS2544390320 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2544390432 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544390528 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544390554 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544390572 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544390610 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544391908 CIITA Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS2544392103 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS2544392140 ACTG1 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS2544392281 ACTG1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS2544392831 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS2544393217 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2544393267 ALDH3A2 Health Risk Likely pathogenic —
RS2544393285 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, ACTG1-related disorder
RS2544393343 ALDH3A2 Health Risk Pathogenic —
RS2544393388 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2544393411 ALDH3A2 Health Risk Pathogenic —
RS2544393489 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2544395061 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544395103 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544395257 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544395419 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544397166 PSMB10 Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 5, Proteasome-associated autoinflammatory syndrome 5
RS2544397242 CBFB Health Risk Pathogenic Cleidocranial dysplasia 2, Cleidocranial dysplasia 2
RS2544397939 CCDC88C Health Risk Pathogenic —
RS2544398205 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544398331 CCDC88C Health Risk Pathogenic —
RS2544398828 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2544399189 PSMB10 Health Risk Pathogenic Immunodeficiency 121 with autoinflammation, Immunodeficiency 121 with autoinflammation
RS2544400695 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2544401055 CIITA Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS2544401345 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544401818 TSC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544402252 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544402748 TSC2 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS2544403082 LCAT Health Risk Pathogenic —
RS2544404975 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544405181 ALDH3A2 Health Risk Pathogenic —
RS2544405202 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2544405335 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2544405582 ALDH3A2 Health Risk Pathogenic —
RS2544405667 LCAT Health Risk Likely pathogenic —
RS2544405809 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2544405828 ALDH3A2 Health Risk Pathogenic —
RS2544405849 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2544405868 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2544405872 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2544405929 ALDH3A2 Health Risk Pathogenic —
RS2544406616 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544406643 LCAT Health Risk Likely pathogenic Norum disease, Norum disease
RS2544409249 KIAA0753 Health Risk Pathogenic —
RS2544410051 KIAA0753 Health Risk Pathogenic —
RS2544411002 LCAT Health Risk Pathogenic —
RS2544414231 CCDC88C Health Risk Pathogenic/Likely pathogenic Hydrocephalus, nonsyndromic
RS2544415250 CIITA Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS2544421074 PPM1D Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2544421308 FKBP10 Health Risk Pathogenic —
RS2544422008 FKBP10 Health Risk Pathogenic Osteogenesis imperfecta type 12, Osteogenesis imperfecta type 12
RS2544427042 OTOP2;USH1G Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2544427211 USH1G Health Risk Pathogenic —
RS2544427345 USH1G Health Risk Pathogenic Usher syndrome type 1G, Usher syndrome type 1G
RS2544427492 USH1G Health Risk Pathogenic —
RS2544428980 USH1G Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2544431166 USH1G Health Risk Likely pathogenic USH1G-related disorder, USH1G-related disorder
RS2544431739 USH1G Health Risk Pathogenic Usher syndrome type 1G, Usher syndrome type 1G
RS2544432008 USH1G Health Risk Pathogenic —
RS2544432143 CIITA Health Risk Pathogenic MHC class II deficiency 1, MHC class II deficiency 1
RS2544432408 CIITA Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS2544433461 FKBP10 Health Risk Pathogenic —
RS2544434003 FKBP10 Health Risk Likely pathogenic Bruck syndrome 1, Osteogenesis imperfecta type 11
RS2544435210 USH1G Health Risk Pathogenic Usher syndrome type 1G, Usher syndrome type 1G
RS2544435572 USH1G Health Risk Pathogenic Usher syndrome type 1G, Usher syndrome type 1G
RS2544436900 FKBP10 Health Risk Pathogenic —
RS2544436967 FKBP10 Health Risk Likely pathogenic —
RS2544437740 FKBP10 Health Risk Pathogenic —
RS2544440342 PPM1D Health Risk Conflicting classifications of pathogenicity —
RS2544444797 NEK8 Health Risk Likely pathogenic Nephronophthisis 9, Nephronophthisis 9
RS2544446785 FKBP10 Health Risk Likely pathogenic Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS2544446810 FKBP10 Health Risk Pathogenic —
RS2544448905 FSCN2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2544454642 DNAH9 Health Risk Pathogenic Ciliary dyskinesia, primary
RS2544463573 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544465676 PPM1D Health Risk Pathogenic Familial cancer of breast, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS2544465726 PPM1D Health Risk Likely pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS2544465797 PPM1D Health Risk Likely pathogenic Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS2544467143 CCDC88C Health Risk Pathogenic —
RS2544468139 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2544468802 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2544469389 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544469716 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS2544469783 PPM1D Health Risk Pathogenic —
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