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
RS2108566215 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2108569910 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2108571563 IQCB1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2108576783 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS2108577268 MYLK Health Risk Likely pathogenic Isolated thoracic aortic aneurysm, Isolated thoracic aortic aneurysm
RS2108578389 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS2108591614 IQCB1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2108595322 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2108617673 THPO Health Risk Pathogenic Thrombocytopenia, Thrombocytopenia
RS2108622234 RNF13 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 73
RS2108622433 RNF13 Health Risk Likely pathogenic —
RS2108623965 THPO Health Risk Pathogenic/Likely pathogenic Thrombocythemia 1, Thrombocythemia 1
RS2108636142 MYLK Health Risk Likely pathogenic —
RS2108636995 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108638585 TP63 Health Risk Likely pathogenic Split hand-foot malformation 4, Split hand-foot malformation 4
RS2108643149 NRROS Health Risk Pathogenic Seizures, early-onset
RS2108643223 IQCB1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2108644029 RNF168 Health Risk Pathogenic —
RS2108657396 RNF168 Health Risk Pathogenic —
RS2108657437 RNF168 Health Risk Pathogenic —
RS2108658339 CLDN16 Health Risk Likely pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS2108670592 CLDN16 Health Risk Likely pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS2108677025 CCDC50 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 44, Autosomal dominant nonsyndromic hearing loss 44
RS2108740086 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS2108743641 CRYGS Health Risk Likely pathogenic See cases, See cases
RS2108749184 RHO Health Risk Pathogenic —
RS2108749238 RHO Health Risk Pathogenic —
RS2108749253 RHO Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2108749285 RHO Health Risk Pathogenic —
RS2108749332 RHO Health Risk Likely pathogenic —
RS2108749341 RHO Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2108749921 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2108749979 RHO Health Risk Likely pathogenic —
RS2108750013 RHO Health Risk Likely pathogenic —
RS2108750367 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS2108767230 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108770774 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108772656 ATP2C1 Health Risk Likely pathogenic —
RS2108773003 PAK2 Health Risk Pathogenic Knobloch syndrome, Knobloch syndrome
RS2108777040 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108777701 MSX1 Health Risk Pathogenic Hypoplastic enamel-onycholysis-hypohidrosis syndrome, Hypoplastic enamel-onycholysis-hypohidrosis syndrome
RS2108777804 MSX1 Health Risk Pathogenic —
RS2108778592 MSX1 Health Risk Pathogenic Orofacial cleft 5, Orofacial cleft 5
RS2108778623 MSX1 Health Risk Pathogenic Oligodontia, Oligodontia
RS2108778725 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108783903 FGFR3 Health Risk Pathogenic —
RS2108787070 PIGG Health Risk Pathogenic Emm-null phenotype, Emm-null phenotype
RS2108787283 MYLK Health Risk Likely pathogenic —
RS2108788549 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108797528 FGFR3 Health Risk Likely pathogenic Achondroplasia, Achondroplasia
RS2108801356 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS2108801803 TP63 Health Risk Conflicting classifications of pathogenicity Ectrodactyly, ectodermal dysplasia
RS2108801923 TP63 Health Risk Likely pathogenic Rapp-Hodgkin syndrome, Rapp-Hodgkin syndrome
RS2108801985 TP63 Health Risk Likely pathogenic Split hand-foot malformation 4, Split hand-foot malformation 4
RS2108804396 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108804497 NSD2 Health Risk Conflicting classifications of pathogenicity —
RS2108804508 TP63 Health Risk Likely pathogenic TP63-related disorder, Ectrodactyly
RS2108804893 NSD2 Health Risk Pathogenic —
RS2108805626 NSD2 Health Risk Likely pathogenic Rauch-Steindl syndrome, Rauch-Steindl syndrome
RS2108805708 NSD2 Health Risk Pathogenic Syndromic intellectual disability, Syndromic intellectual disability
RS2108806204 TP63 Health Risk Pathogenic/Likely pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108806489 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108806537 FGFR3 Health Risk Conflicting classifications of pathogenicity Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome
RS2108807160 FGFR3 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2108814954 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS2108829049 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108829926 ATP13A3 Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary hypertension
RS2108832976 LETM1 Health Risk Pathogenic LETM1-associated clinical spectrum with predominant nervous system involvement, Neurodegeneration
RS2108833043 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108833230 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108833500 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108837611 CACNA1D Health Risk Likely pathogenic —
RS2108838579 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108839112 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108840447 LETM1 Health Risk Pathogenic LETM1-associated clinical spectrum with predominant nervous system involvement, LETM1-associated clinical spectrum with predominant nervous system involvement
RS2108843144 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2108843158 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108843186 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108843224 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108846252 LETM1 Health Risk Pathogenic LETM1-associated clinical spectrum with predominant nervous system involvement, LETM1-associated clinical spectrum with predominant nervous system involvement
RS2108846393 LETM1 Health Risk Likely pathogenic LETM1-associated clinical spectrum with predominant nervous system involvement, LETM1-associated clinical spectrum with predominant nervous system involvement
RS2108846420 LETM1 Health Risk Pathogenic LETM1-associated clinical spectrum with predominant nervous system involvement, Neurodegeneration
RS2108847014 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108847232 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108847729 LETM1 Health Risk Pathogenic LETM1-associated clinical spectrum with predominant nervous system involvement, LETM1-associated clinical spectrum with predominant nervous system involvement
RS2108851273 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108851279 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108851441 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2108851695 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108851802 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108861558 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108863739 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2108864342 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2108864735 TP63 Health Risk Pathogenic/Likely pathogenic TP63-Related Spectrum Disorders, ADULT syndrome
RS2108864810 TP63 Health Risk Pathogenic Ectrodactyly, ectodermal dysplasia
RS2108864814 TP63 Health Risk Pathogenic Limb-mammary syndrome, Limb-mammary syndrome
RS2108864831 TP63 Health Risk Pathogenic TP63-Related Spectrum Disorders, TP63-Related Spectrum Disorders
RS2108864901 TP63 Health Risk Likely pathogenic —
RS2108869161 OPA1 Health Risk Pathogenic —
RS2108873027 TP63 Health Risk Likely pathogenic TP63-Related Spectrum Disorders, TP63-related disorder
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