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
RS121913013 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Dilated cardiomyopathy 1BB
RS121913015 PCBD1 Health Risk Pathogenic/Likely pathogenic Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS121913016 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS121913017 ERCC2 Health Risk Pathogenic Xeroderma pigmentosum, group D
RS121913018 ERCC2 Health Risk Likely pathogenic Trichothiodystrophy 1, photosensitive
RS121913019 ERCC2 Health Risk Pathogenic Xeroderma pigmentosum, group D
RS121913020 ERCC2 Health Risk Pathogenic Trichothiodystrophy 1, photosensitive
RS121913021 ERCC2 Health Risk Likely pathogenic Trichothiodystrophy 1, photosensitive
RS121913023 ERCC2 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 2, Inborn genetic diseases
RS121913024 ERCC2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group D
RS121913025 ERCC2 Health Risk Pathogenic Xeroderma pigmentosum, group D
RS121913026 ERCC2 Health Risk Pathogenic Trichothiodystrophy 1, photosensitive
RS121913027 ERCC1 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 4, Cerebrooculofacioskeletal syndrome 4
RS121913028 ERCC1 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 4, Cockayne syndrome
RS121913030 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS121913031 SLC26A3 Health Risk Pathogenic/Likely pathogenic Congenital secretory diarrhea, chloride type
RS121913032 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS121913033 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS121913034 MEN1 Health Risk Pathogenic Angiofibroma, somatic
RS121913035 MEN1 Health Risk Pathogenic Adrenocortical adenoma, Adrenocortical adenoma
RS121913036 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy
RS121913037 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy
RS121913038 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy
RS121913039 TYMP Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS121913040 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS121913041 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS121913042 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS121913043 ESR1 Health Risk Pathogenic Estrogen receptor mutant, temperature-sensitive
RS121913045 ERCC3 Health Risk Pathogenic Xeroderma pigmentosum group B, Trichothiodystrophy 2
RS121913046 ERCC3 Health Risk Pathogenic Trichothiodystrophy 2, photosensitive
RS121913047 ERCC3 Health Risk Pathogenic Xeroderma pigmentosum group B, Inborn genetic diseases
RS121913048 ERCC3 Health Risk Pathogenic Xeroderma pigmentosum group B, Xeroderma pigmentosum group B
RS121913049 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS121913050 ERCC4 Health Risk Pathogenic XFE progeroid syndrome, XFE progeroid syndrome
RS121913051 CFH Health Risk Pathogenic/Likely pathogenic Hemolytic uremic syndrome, atypical
RS121913054 CFH Health Risk Pathogenic Factor H deficiency, Factor H deficiency
RS121913056 CFH Health Risk Likely pathogenic, low penetrance Factor H deficiency, Atypical hemolytic-uremic syndrome
RS121913057 CFH Health Risk Pathogenic Hemolytic uremic syndrome, atypical
RS121913058 CFH Health Risk Likely pathogenic Factor H deficiency, Factor H deficiency
RS121913059 CFH Health Risk Conflicting classifications of pathogenicity Factor H deficiency, Hemolytic uremic syndrome
RS121913060 CFH Health Risk Pathogenic Hemolytic uremic syndrome, atypical
RS121913061 CFH Health Risk Pathogenic Basal laminar drusen, Age related macular degeneration 4
RS121913063 CFH Health Risk Pathogenic, low penetrance Hemolytic uremic syndrome, atypical
RS121913064 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS121913065 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS121913066 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS121913067 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS121913069 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS121913070 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS121913071 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS121913072 F13A1 Health Risk Pathogenic/Likely pathogenic Factor XIII, A subunit
RS121913073 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS121913074 F13A1 Health Risk Pathogenic Factor XIII, A subunit
RS121913075 F13B Health Risk Pathogenic Factor XIII, b subunit
RS121913076 FAS Health Risk Pathogenic AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
RS121913077 FAS Health Risk Pathogenic AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
RS121913080 FAS Health Risk Pathogenic/Likely pathogenic AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
RS121913082 FAS Health Risk Pathogenic SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED
RS121913083 FAS Health Risk Pathogenic SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED
RS121913084 FAS Health Risk Pathogenic SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED
RS121913085 FAS Health Risk Pathogenic AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
RS121913086 FAS Health Risk Pathogenic AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
RS121913087 FGG Health Risk Pathogenic FIBRINOGEN TOKYO 2, Hypofibrinogenemia
RS121913088 FGG Health Risk Pathogenic/Likely pathogenic FIBRINOGEN HAIFA 1, Hypofibrinogenemia
RS121913091 FGG Health Risk Pathogenic/Likely pathogenic FIBRINOGEN ASAHI, Familial dysfibrinogenemia
RS121913094 FGG Health Risk Likely pathogenic Familial dysfibrinogenemia, Familial dysfibrinogenemia
RS121913101 FGFR3 Health Risk Likely pathogenic Thanatophoric dysplasia type 1, See cases
RS121913103 FGFR3 Health Risk Pathogenic/Likely pathogenic Thanatophoric dysplasia type 1, See cases
RS121913105 FGFR3 Health Risk Pathogenic Thanatophoric dysplasia type 1, 14 conditions
RS121913111 FGFR3 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS121913113 FGFR3 Health Risk Pathogenic Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome
RS121913114 FGFR3 Health Risk Pathogenic Achondroplasia, Hypochondroplasia
RS121913115 FGFR3 Health Risk Pathogenic/Likely pathogenic Hypochondroplasia, Short stature
RS121913116 FGFR3 Health Risk Pathogenic/Likely pathogenic Hypochondroplasia, 9 conditions
RS121913118 FH Health Risk Pathogenic
RS121913119 FH Health Risk Pathogenic/Likely pathogenic Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS121913120 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS121913121 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS121913122 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS121913123 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS121913125 GABRB3 Health Risk Conflicting classifications of pathogenicity Insomnia, Epilepsy
RS121913126 GABRB3 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS121913129 MSX1 Health Risk Pathogenic/Likely pathogenic Tooth agenesis, selective
RS121913130 MSX1 Health Risk Pathogenic Tooth agenesis, selective
RS121913131 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 2
RS121913132 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2
RS121913133 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2
RS121913134 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 2
RS121913135 INSR Health Risk Pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS121913136 INSR Health Risk Conflicting classifications of pathogenicity Leprechaunism syndrome, INSR-related disorder
RS121913137 INSR Health Risk Pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS121913138 INSR Health Risk Pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS121913139 INSR Health Risk Pathogenic Insulin resistance, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS121913140 INSR Health Risk Pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS121913141 INSR Health Risk Pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS121913142 INSR Health Risk Pathogenic Insulin-resistant diabetes mellitus, Insulin-resistant diabetes mellitus
RS121913143 INSR Health Risk Pathogenic Rabson-Mendenhall syndrome, Rabson-Mendenhall syndrome
RS121913144 INSR Health Risk Pathogenic Rabson-Mendenhall syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS121913145 INSR Health Risk Pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS121913146 INSR Health Risk Pathogenic Insulin-resistant diabetes mellitus AND acanthosis nigricans, Insulin-resistant diabetes mellitus AND acanthosis nigricans
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