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
RS2044967603 COL7A1 Health Risk Likely pathogenic —
RS2045013494 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2045046700 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045066309 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2045079112 COL7A1 Health Risk Pathogenic Epidermolysis bullosa pruriginosa, Epidermolysis bullosa pruriginosa
RS2045124635 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045177486 SETD5 Health Risk Pathogenic Cornelia de Lange-like syndrome, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2045187265 SETD5 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS2045199597 COL7A1 Health Risk Likely pathogenic —
RS2045208860 SETD5 Health Risk Pathogenic —
RS2045219860 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045220016 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045232957 KDM6A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2045233591 COL7A1 Health Risk Likely pathogenic —
RS2045235863 COL7A1 Health Risk Pathogenic —
RS2045256930 TANC2 Health Risk Pathogenic INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES, Neurodevelopmental disorder
RS2045273679 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2045279014 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2045286625 COL7A1 Health Risk Pathogenic —
RS2045286663 LAMB2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2045289296 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045311247 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2045317445 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS2045324382 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045344236 COL7A1 Health Risk Pathogenic —
RS2045352552 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045352880 LAMB2 Health Risk Pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS2045366127 LAMB2 Health Risk Likely pathogenic Pierson syndrome, Pierson syndrome
RS2045367114 VPS13C Health Risk Likely pathogenic —
RS2045374191 LAMB2 Health Risk Likely pathogenic Nephrotic syndrome, Pierson syndrome
RS2045374891 LAMB2 Health Risk Pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS2045385688 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045388619 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS2045391529 LAMB2 Health Risk Pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS2045393864 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045393987 COL7A1 Health Risk Pathogenic Transient bullous dermolysis of the newborn, Transient bullous dermolysis of the newborn
RS2045394381 LAMB2 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2045395357 DCC Health Risk Pathogenic —
RS2045439040 COL7A1 Health Risk Pathogenic —
RS2045455875 HCCS Health Risk Likely pathogenic Linear skin defects with multiple congenital anomalies 1, Linear skin defects with multiple congenital anomalies 1
RS2045462398 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2045472442 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS2045472713 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2045473471 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2045478123 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS2045484817 ADGRG1 Health Risk Pathogenic —
RS2045488356 COL7A1 Health Risk Pathogenic —
RS2045490885 COL7A1 Health Risk Pathogenic —
RS2045524028 SETD5 Health Risk Pathogenic/Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS2045526309 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS2045539003 ARMC9 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 30, Joubert syndrome 30
RS2045541526 SETD5 Health Risk Likely pathogenic —
RS2045550860 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045600633 COL7A1 Health Risk Pathogenic —
RS2045619034 KDM6A Health Risk Likely pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2045623626 COL7A1 Health Risk Likely pathogenic —
RS2045631974 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Transient bullous dermolysis of the newborn
RS2045687348 NALCN Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS2045697078 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS2045699975 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS2045705764 MC1R Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION, VARIATION IN
RS2045711151 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045755933 COL7A1 Health Risk Likely pathogenic —
RS2045767651 COL7A1 Health Risk Pathogenic —
RS2045775921 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045777607 ADGRG1 Health Risk Likely pathogenic —
RS2045779618 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2045798629 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045812473 COL7A1 Health Risk Likely pathogenic —
RS2045816079 KDM6A Health Risk Conflicting classifications of pathogenicity Kabuki Syndrome - KDM6A, Kabuki Syndrome - KDM6A
RS2045826576 GRIA3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental abnormality, Syndromic X-linked intellectual disability 94
RS2045831941 COL7A1 Health Risk Pathogenic —
RS2045862543 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2045866462 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045868233 MYO15A Health Risk Pathogenic —
RS2045868741 COL7A1 Health Risk Pathogenic —
RS2045882525 RBBP8 Health Risk Likely pathogenic Jawad syndrome, Seckel syndrome 2
RS2045909405 MYO15A Health Risk Pathogenic —
RS2045915658 VPS13C Health Risk Pathogenic —
RS2045919094 GRIA3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS2045932849 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS2045934591 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2045945784 MUC16 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2045952037 RBBP8 Health Risk Likely pathogenic Jawad syndrome, Jawad syndrome
RS2045976423 ITPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2045987838 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS2046013117 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2046014482 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2046020472 CLN3 Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS2046022108 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS2046023126 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS2046030459 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS2046034052 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2046034449 HCK Health Risk Pathogenic Autoinflammation with pulmonary and cutaneous vasculitis, Autoinflammation with pulmonary and cutaneous vasculitis
RS2046036327 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2046109345 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS2046112247 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS2046113301 CLN3 Health Risk Pathogenic Cone-rod dystrophy, Neuronal ceroid lipofuscinosis 3
RS2046117159 CLN3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Neuronal ceroid lipofuscinosis
RS2046158549 CLN3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Neuronal ceroid lipofuscinosis 3
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