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
RS2139812107 NUBPL Health Risk Pathogenic —
RS2139812177 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139813178 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139813236 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139814525 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139814687 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2139814734 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2139815270 DICER1 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2139815316 LTBP2 Health Risk Likely pathogenic —
RS2139815576 DICER1 Health Risk Likely pathogenic Euthyroid goiter, DICER1-related tumor predisposition
RS2139815717 LTBP2 Health Risk Pathogenic —
RS2139815940 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139820216 NEK9 Health Risk Likely pathogenic Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS2139837979 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139838411 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139842363 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139843944 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139844470 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139844761 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139845849 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2139845854 VRK1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1A, Neuronopathy
RS2139845924 VRK1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2139847738 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139848275 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139848791 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139849146 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139849996 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139850050 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS2139850703 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139852861 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139855793 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139857246 NEMF Health Risk Likely pathogenic Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
RS2139861782 DDHD1 Health Risk Likely pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS2139870889 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS2139883798 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2139886197 MAX Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2139886995 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS2139890297 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2139895315 VIPAS39 Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS2139900517 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139900809 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139903566 CCDC88C Health Risk Pathogenic —
RS2139909895 TSHR Health Risk Pathogenic —
RS2139911402 ZMYM2 Health Risk Likely pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
RS2139911544 ZMYM2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2139912590 ZMYM2 Health Risk Pathogenic —
RS2139925505 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139925538 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139925574 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139925729 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139925832 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139927654 WARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
RS2139937977 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139938444 NALCN Health Risk Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS2139938691 NALCN Health Risk Pathogenic Congenital contractures of the limbs and face, hypotonia
RS2139938826 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS2139941138 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS2139941220 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139941246 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139941367 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139941444 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139945350 TTLL5 Health Risk Pathogenic —
RS2139949646 ZMYM2 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS2139951107 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139951585 GALC Health Risk Pathogenic —
RS2139953103 BCL11B Health Risk Pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS2139953911 BCL11B Health Risk Pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS2139955381 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS2139956292 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139956343 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139956468 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139956480 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139956734 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139957076 IFT43 Health Risk Pathogenic —
RS2139958739 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139960322 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2139960687 FBLN5 Health Risk Likely pathogenic Cutis laxa, autosomal dominant
RS2139961448 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139961576 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139961618 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139961653 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139961690 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139962593 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2139962772 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS2139963605 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139963715 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS2139963878 MAX Health Risk Pathogenic/Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma
RS2139964469 GNPNAT1 Health Risk Pathogenic Rhizomelic dysplasia, Ain-Naz type
RS2139966575 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139972425 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2139974502 ZMYM2 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS2139974701 ZMYM2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2139975355 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2139975409 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2139975910 IRF2BPL Health Risk Pathogenic —
RS2139976004 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2139976167 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS2139976767 IRF2BPL Health Risk Likely pathogenic —
RS2139976783 IRF2BPL Health Risk Pathogenic —
RS2139976843 IRF2BPL Health Risk Likely pathogenic —
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