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
RS2130490634 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2130491235 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS2130491759 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2130492512 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2130493020 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2130493086 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2130493114 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, Trichorhinophalangeal syndrome
RS2130494014 TRPS1 Health Risk Pathogenic —
RS2130494791 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal syndrome, type III
RS2130498264 FBXO32 Health Risk Likely pathogenic OMIM: 606604, OMIM: 606604
RS2130513020 DGAT1 Health Risk Pathogenic —
RS2130513909 DGAT1 Health Risk Pathogenic —
RS2130514507 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS2130515044 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS2130518888 DGAT1 Health Risk Pathogenic Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS2130528812 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2130530613 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2130531352 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2130531887 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2130531960 TRPS1 Health Risk Pathogenic Trichorhinophalangeal syndrome, type III
RS2130576231 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2130599529 SMARCA2 Health Risk Pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS2130599584 SMARCA2 Health Risk Likely pathogenic —
RS2130601407 POMK Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2130611178 STAR Health Risk Pathogenic —
RS2130611276 STAR Health Risk Likely pathogenic —
RS2130614304 STAR Health Risk Pathogenic —
RS2130614519 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS2130617478 STAR Health Risk Pathogenic —
RS2130617601 STAR Health Risk Pathogenic —
RS2130617665 STAR Health Risk Pathogenic —
RS2130621458 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130622403 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2130626422 POMK Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2130626601 POMK Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS2130626814 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS2130635894 POP1 Health Risk Likely pathogenic Anauxetic dysplasia 2, Anauxetic dysplasia 2
RS2130638836 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS2130643543 LSM1 Health Risk Pathogenic/Likely pathogenic Global developmental delay, FICUS syndrome
RS2130647781 HGSNAT Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2130648345 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2130648385 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2130648749 HGSNAT Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS2130651375 RECQL4 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2130653843 RECQL4 Health Risk Likely pathogenic —
RS2130654806 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130654895 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130655986 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130656050 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130657545 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130658485 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130661643 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130662004 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130664400 TMEM67 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2130664418 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130668581 TMEM67 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2130670737 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130670832 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130672651 GPIHBP1 Health Risk Pathogenic Hyperlipoproteinemia, type 1D
RS2130673117 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130673158 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130676059 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130677693 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130677764 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130678319 VPS13B Health Risk Likely pathogenic —
RS2130678821 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130679030 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130679206 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS2130679286 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130679413 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130679588 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130679794 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130680017 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130680464 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130680809 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130681529 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS2130681744 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS2130682673 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130684253 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130684472 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130689994 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130690035 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130690486 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130690528 TMEM67 Health Risk Pathogenic —
RS2130690833 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2130692394 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS2130697073 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS2130697082 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2130697429 TMEM67 Health Risk Pathogenic —
RS2130698955 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130702516 RECQL4 Health Risk Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130702553 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130702734 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130703373 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130703525 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Ovarian cancer
RS2130704630 HSD17B3 Health Risk Pathogenic —
RS2130706345 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, RECQL4-related spectrum disorders
RS2130707477 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS2130707777 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS2130707964 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
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