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
RS2489102759 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489102854 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489103092 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489103106 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489104166 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489104177 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489104302 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489104342 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489104369 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489106447 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489106564 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489110933 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489110934 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489110954 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489110995 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489111102 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489111109 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489124576 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489124595 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489124599 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489124701 GLDC Health Risk Pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS2489124753 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489160558 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489160608 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489160614 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489160744 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489161312 PLAA Health Risk Likely pathogenic Neurodevelopmental disorder with progressive microcephaly, spasticity
RS2489162390 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489162680 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489162816 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489162833 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2489222997 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2489223096 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2489226644 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2489226781 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2489226859 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2489231450 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS2489231786 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS2489231841 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489231853 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS2489231873 GRHPR Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
RS2489231890 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489231901 GRHPR Health Risk Likely pathogenic —
RS2489231928 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS2489232215 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489232420 GRHPR Health Risk Pathogenic —
RS2489232465 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489234483 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489234534 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489234631 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS2489235913 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489235986 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489236019 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS2489236032 GRHPR Health Risk Pathogenic —
RS2489239934 GRHPR Health Risk Pathogenic —
RS2489239970 GRHPR Health Risk Pathogenic —
RS2489240009 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489240019 GRHPR Health Risk Pathogenic —
RS2489240316 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489242940 GRHPR Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
RS2489242953 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489243051 GRHPR Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
RS2489243310 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489244935 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489245051 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS2489245319 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489245598 GRHPR Health Risk Pathogenic —
RS2489245627 GRHPR Health Risk Pathogenic —
RS2489248956 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489249100 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS2489249156 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489249189 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS2489249374 GRHPR Health Risk Pathogenic —
RS2489249571 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489258602 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS2489258701 GRHPR Health Risk Pathogenic —
RS2489258743 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS2489258749 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS2489273553 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS2489273847 CDKN2A Health Risk Pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS2489274630 RFX3 Health Risk Likely pathogenic Developmental disorder, Developmental disorder
RS2489274805 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2489275051 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS2489275147 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2489275366 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS2489275539 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS2489275992 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2489276462 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2489276684 CDKN2A Health Risk Likely pathogenic Melanoma and neural system tumor syndrome, Melanoma and neural system tumor syndrome
RS2489276701 CDKN2A Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2489277337 CDKN2A Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2489278121 IFT74 Health Risk Pathogenic —
RS2489290573 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial melanoma
RS2489290714 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS2489290856 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome
RS2489290903 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS2489291220 CDKN2A Health Risk Pathogenic Melanoma, cutaneous malignant
RS2489291303 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2489291666 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2489292008 CDKN2A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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