SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS786200982 MID1 Health Risk Pathogenic —
RS786200983 PCCB Health Risk Pathogenic Propionic acidemia, PCCB-related disorder
RS786200989 SCN1A Health Risk Pathogenic —
RS786200991 STK11 Health Risk Pathogenic —
RS786200992 TCF4 Health Risk Pathogenic —
RS786200996 UBE3A Health Risk Pathogenic —
RS786200997 ZEB2 Health Risk Pathogenic —
RS786200999 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS786201001 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS786201003 NALCN Health Risk Pathogenic/Likely pathogenic Intellectual disability with episodic ataxia and congenital arthrogryposis, Congenital contractures of the limbs and face
RS786201004 LAMB3 Health Risk Pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS786201005 ISG15 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
RS786201006 IL12B Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
RS786201007 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS786201011 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS786201012 KIF14 Health Risk Pathogenic Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
RS786201013 KIF14 Health Risk Pathogenic Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
RS786201014 RNF125 Health Risk Pathogenic Tenorio syndrome, Tenorio syndrome
RS786201015 CELSR1 Health Risk risk factor Neural tube defects, susceptibility to
RS786201016 CELSR1 Health Risk risk factor Neural tube defects, susceptibility to
RS786201017 CLTC;PTRH2 Health Risk Pathogenic Neurologic, endocrine
RS786201019 SNRPB Health Risk Pathogenic/Likely pathogenic Cerebro-costo-mandibular syndrome, SNRPB-related disorder
RS786201020 SNRPB Health Risk Pathogenic Cerebro-costo-mandibular syndrome, Cerebro-costo-mandibular syndrome
RS786201021 SNRPB Health Risk Pathogenic Cerebro-costo-mandibular syndrome, Cerebro-costo-mandibular syndrome
RS786201022 SNRPB Health Risk Pathogenic Cerebro-costo-mandibular syndrome, Cerebro-costo-mandibular syndrome
RS786201023 MYH2 Health Risk Pathogenic Myopathy, proximal
RS786201027 TMC1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 36, Autosomal dominant nonsyndromic hearing loss 36
RS786201028 CLN3 Health Risk Pathogenic Ceroid lipofuscinosis, neuronal
RS786201030 SPECC1L Health Risk Pathogenic Teebi hypertelorism syndrome, Teebi hypertelorism syndrome 1
RS786201031 SPECC1L Health Risk Conflicting classifications of pathogenicity Teebi hypertelorism syndrome 1, Teebi hypertelorism syndrome 1
RS786201032 IFITM5 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 5, IFITM5-related disorder
RS786201037 PNPLA6 Health Risk Pathogenic Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome
RS786201038 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS786201039 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS786201040 BMPR1A Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS786201041 PTEN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome 1
RS786201042 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS786201044 PTEN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Acute megakaryoblastic leukemia
RS786201045 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS786201047 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS786201049 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS786201050 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS786201057 TP53 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS786201058 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS786201059 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS786201062 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS786201063 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS786201066 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS786201077 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS786201084 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS786201085 SDHB Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4
RS786201086 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS786201088 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS786201090 STK11 Health Risk Pathogenic/Likely pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS786201095 SDHB Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Carney triad
RS786201108 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS786201118 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS786201134 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS786201148 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS786201161 SDHB Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, SDHB-related disorder
RS786201175 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS786201177 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS786201180 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS786201184 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS786201200 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS786201205 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS786201209 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS786201210 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS786201213 STK11 Health Risk Pathogenic/Likely pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS786201215 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS786201234 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS786201237 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS786201257 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS786201267 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS786201269 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS786201277 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS786201280 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS786201291 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS786201304 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS786201306 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS786201309 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS786201310 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Café-au-lait macules with pulmonary stenosis
RS786201315 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS786201316 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS786201323 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS786201333 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS786201338 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS786201344 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS786201349 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS786201350 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS786201357 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS786201367 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS786201375 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS786201397 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS786201402 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS786201404 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS786201418 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS786201420 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS786201439 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS786201451 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
« Prev 1 ... 3732 3733 3734 3735 3736 3737 3738 ... 4010 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →