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
RS104893730 CLDN16 Health Risk Pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS104893731 CLDN16 Health Risk Pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS104893732 CLDN16 Health Risk Pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS104893733 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS104893734 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS104893735 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS104893736 CRYGS Health Risk Pathogenic Cataract 20 multiple types, Retinitis pigmentosa
RS104893737 FOXL2 Health Risk Pathogenic BLEPHAROPHIMOSIS, PTOSIS
RS104893738 FOXL2 Health Risk Pathogenic BLEPHAROPHIMOSIS, PTOSIS
RS104893739 FOXL2 Health Risk Pathogenic Blepharophimosis, ptosis
RS104893740 GNAT1 Health Risk Pathogenic Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness autosomal dominant 3
RS104893741 FOXL2 Health Risk Pathogenic BLEPHAROPHIMOSIS, PTOSIS
RS104893744 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Waardenburg syndrome type 2A
RS104893745 MITF Health Risk Pathogenic Tietz syndrome, Tietz syndrome
RS104893746 MITF Health Risk Pathogenic Waardenburg syndrome type 2A, Heterochromia iridis
RS104893748 MYL3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 8, Hypertrophic cardiomyopathy
RS104893752 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, OPA1-related disorder
RS104893753 OPA1 Health Risk Pathogenic Autosomal dominant optic atrophy classic form, OPA1-related optic atrophy with or without extraocular features
RS104893754 POU1F1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS104893755 POU1F1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS104893756 POU1F1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS104893757 POU1F1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS104893758 POU1F1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS104893759 POU1F1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS104893760 POU1F1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS104893761 POU1F1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS104893762 POU1F1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS104893763 POU1F1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS104893764 POU1F1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
RS104893765 POU1F1 Health Risk Pathogenic/Likely pathogenic Pituitary hormone deficiency, combined
RS104893766 POU1F1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS104893767 PROK2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder
RS104893768 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Pigmentary retinal dystrophy
RS104893769 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa
RS104893771 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Pigmentary retinal dystrophy
RS104893772 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa
RS104893773 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS104893774 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS104893775 RHO Health Risk Pathogenic Retinitis punctata albescens, Retinitis pigmentosa 4
RS104893776 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa
RS104893777 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS104893778 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS104893779 RHO Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 4, Retinal dystrophy
RS104893780 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS104893781 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa
RS104893782 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS104893783 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, autosomal recessive
RS104893786 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa
RS104893787 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS104893788 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS104893789 RHO Health Risk Pathogenic Congenital stationary night blindness autosomal dominant 1, Congenital stationary night blindness autosomal dominant 1
RS104893790 RHO Health Risk Pathogenic Congenital stationary night blindness autosomal dominant 1, Pigmentary retinal dystrophy
RS104893791 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, autosomal recessive
RS104893792 RHO Health Risk Pathogenic Retinitis pigmentosa 4, RHO-related disorder
RS104893793 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS104893794 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinal dystrophy
RS104893795 RHO Health Risk Pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS104893796 RHO Health Risk Likely pathogenic Congenital stationary night blindness autosomal dominant 1, Congenital stationary night blindness autosomal dominant 1
RS104893797 RHO Health Risk Likely pathogenic Retinitis pigmentosa 4, Retinitis pigmentosa 4
RS104893799 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS104893800 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS104893801 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS104893802 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS104893803 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS104893804 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS104893805 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS104893806 SOX2 Health Risk Pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome
RS104893807 TGFBR2 Health Risk Pathogenic Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
RS104893809 TGFBR2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
RS104893810 TGFBR2 Health Risk Likely pathogenic Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
RS104893811 TGFBR2 Health Risk Pathogenic Loeys-Dietz syndrome 2, Cardiovascular phenotype
RS104893812 TGFBR2 Health Risk Pathogenic Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
RS104893813 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome
RS104893814 TGFBR2 Health Risk Pathogenic Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS104893815 TGFBR2 Health Risk Pathogenic Loeys-Dietz syndrome 2, Colorectal cancer
RS104893816 TGFBR2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
RS104893817 TGFBR2 Health Risk Pathogenic Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
RS104893818 TGFBR2 Health Risk Pathogenic Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS104893819 TGFBR2 Health Risk Pathogenic Loeys-Dietz syndrome 2, Loeys-Dietz syndrome
RS104893823 TNNC1 Health Risk Likely pathogenic Dilated cardiomyopathy 1Z, Dilated cardiomyopathy 1Z
RS104893824 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS104893825 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS104893826 VHL Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Hereditary cancer-predisposing syndrome
RS104893827 VHL Health Risk Likely pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS104893830 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS104893831 VHL Health Risk Likely pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS104893832 WNT7A Health Risk Pathogenic Fuhrmann syndrome, Fuhrmann syndrome
RS104893834 DMP1 Health Risk Pathogenic Hypophosphatemic rickets, autosomal recessive
RS104893835 WNT7A Health Risk Likely pathogenic Schinzel phocomelia syndrome, Schinzel phocomelia syndrome
RS104893836 GNRHR Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Isolated congenital hypogonadotropic hypogonadism
RS104893837 GNRHR Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Amenorrhea
RS104893838 GNRHR Health Risk Pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS104893839 GNRHR Health Risk Pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS104893840 GNRHR Health Risk Pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Amenorrhea
RS104893841 GNRHR Health Risk Pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS104893842 GNRHR Health Risk Pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism
RS104893843 GNRHR Health Risk Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Isolated GnRH Deficiency
RS104893844 GNRHR Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS104893846 MMAA Health Risk Pathogenic Methylmalonic aciduria, cblA type
RS104893847 GNRHR Health Risk Pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
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