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
RS1671943905 ALMS1 Health Risk Pathogenic Retinal dystrophy, early-onset severe
RS1671946886 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671951264 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671960904 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS1671970302 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease type I
RS1671971419 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671971721 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671974033 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671974195 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS1671983691 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671987417 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS1671989236 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1671994225 SLC3A1 Health Risk Pathogenic SLC3A1-related disorder, SLC3A1-related disorder
RS1672009270 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1672034468 ALMS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1672064864 TPO Health Risk Pathogenic —
RS1672093562 SLC3A1 Health Risk Pathogenic SLC3A1-related disorder, SLC3A1-related disorder
RS1672093819 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS1672096009 ADAMTSL4 Health Risk Pathogenic Ectopia lentis et pupillae, Ectopia lentis et pupillae
RS1672102770 ADAMTSL4 Health Risk Pathogenic —
RS1672114679 ADAMTSL4 Health Risk Pathogenic —
RS1672138655 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1672141593 WDR35 Health Risk Pathogenic —
RS1672151930 NCF2 Health Risk Likely pathogenic —
RS1672152382 HAAO Health Risk Likely pathogenic Congenital NAD deficiency disorder, Vertebral
RS1672198948 ADAMTSL4 Health Risk Pathogenic —
RS1672208678 ADAMTSL4 Health Risk Pathogenic —
RS1672225649 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1672230891 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1672231681 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1672233353 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1672233572 MSH2 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1672239981 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1672240193 MSH2 Health Risk Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer
RS1672241024 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1672244370 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1672250353 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1672250622 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1672252966 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1672254117 ADAMTSL4 Health Risk Pathogenic —
RS1672276134 FBXO11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1672284298 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS1672291261 FBXO11 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1672291512 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS1672294906 SDHC Health Risk Pathogenic/Likely pathogenic Rhabdomyosarcoma, Pheochromocytoma/paraganglioma syndrome 3
RS1672315172 TPO Health Risk Likely pathogenic —
RS1672315282 TPO Health Risk Likely pathogenic —
RS1672324636 NCF2 Health Risk Likely pathogenic NCF2-related disorder, NCF2-related disorder
RS1672325016 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1672328940 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS1672346572 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS1672396241 ADAMTSL4 Health Risk Likely pathogenic —
RS1672402787 FAM161A Health Risk Pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS1672420542 FBXO11 Health Risk Likely pathogenic —
RS1672424005 FBXO11 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1672516278 ADAMTSL4 Health Risk Pathogenic —
RS1672524253 SUCLG1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS1672530701 ADAMTSL4 Health Risk Pathogenic —
RS1672530798 FBXO11 Health Risk Likely pathogenic Delayed speech and language development, Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
RS1672531146 ADAMTSL4 Health Risk Pathogenic —
RS1672531686 FBXO11 Health Risk Pathogenic —
RS1672546550 MSH2 Health Risk Pathogenic Lynch-like syndrome, Lynch-like syndrome
RS1672547846 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1672548902 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS1672550932 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1672551053 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS1672553516 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1672557694 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1672558537 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1672558841 HAAO Health Risk Conflicting classifications of pathogenicity Vertebral, cardiac
RS1672560841 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS1672561306 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1672561938 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1672612297 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1672642650 NCF2 Health Risk Likely pathogenic Granulomatous disease, chronic
RS1672644582 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1672654480 MSH2 Health Risk Pathogenic Lynch-like syndrome, Hereditary cancer-predisposing syndrome
RS1672655257 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1672659022 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1672660061 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1672660841 MSH2 Health Risk Likely pathogenic Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colon cancer
RS1672660930 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1672662905 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1672664863 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1672667969 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1672668358 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1672669489 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1672676776 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1672681892 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1672684698 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Lynch syndrome 1
RS1672691264 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1672702813 WDR35 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1672720927 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1672723966 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency 1, Mitochondrial trifunctional protein deficiency 1
RS1672741917 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1672759652 LRPPRC Health Risk Pathogenic —
RS1672760852 FAM161A Health Risk Pathogenic —
RS1672775417 LRPPRC Health Risk Likely pathogenic —
RS1672803381 FBXO11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1672806975 FBXO11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
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