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+ Genes 9

+ Genes associated with diseases 9

Genes at Omim

ADH1B, COL11A1, CYP1B1, IL13, LRP5, MC1R, MTHFR, PAH, PTPN22,
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3)
{Alcohol dependence, protection against}, 103780 (3)
COL11A1 {Lumbar disc herniation, susceptibility to}, 603932 (3)
Fibrochondrogenesis 1, 228520 (3)
Marshall syndrome, 154780 (3)
Stickler syndrome, type II, 604841 (3)
CYP1B1 Anterior segment dysgenesis 6, multiple subtypes, 617315 (3)
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)
IL13 {Allergic rhinitis, susceptibility to}, 607154 (3)
{Asthma, susceptibility to}, 600807 (3)
LRP5 {Osteoporosis}, 166710 (3)
Exudative vitreoretinopathy 4, 601813 (3)
Hyperostosis, endosteal, 144750 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosclerosis, 144750 (3)
Polycystic liver disease 4 with or without kidney cysts, 617875 (3)
[Bone mineral density variability 1], 601884 (3)
van Buchem disease, type 2, 607636 (3)
MC1R {Melanoma, cutaneous malignant, 5}, 613099 (3)
{UV-induced skin damage}, 266300 (3)
[Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3)
[Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3)
[Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3)
{Albinism, oculocutaneous, type II, modifier of}, 203200 (3)
MTHFR {Neural tube defects, susceptibility to}, 601634 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
Homocystinuria due to MTHFR deficiency, 236250 (3)
{Thromboembolism, susceptibility to}, 188050 (3)
{Vascular disease, susceptibility to} (3)
PAH Phenylketonuria, 261600 (3)
[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
PTPN22 {Diabetes, type 1, susceptibility to}, 222100 (3)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
{Systemic lupus erythematosus susceptibility to}, 152700 (3)

Genes at Clinical Genomics Database

COL11A1, CYP1B1, LRP5, MC1R, MTHFR, PAH,
COL11A1 Stickler syndrome, type II
Fibrochondrogenesis
Marshall syndrome
CYP1B1 Glaucoma, primary open angle, adult-onset
Peters anomaly
Glaucoma 3A, primary congenital
LRP5 van Buchem disease, type 2
Osteopetrosis, autosomal dominant 1
Osteosclerosis
Hyperostosis, endosteal
Exudative vitreoretinopathy 4
Osteoporosis-pseudoglioma syndrome
MC1R Increased analgesia from kappa-opioid receptor agonist, female specific
MTHFR Homocystinuria due to MTHFR deficiency
PAH Phenylketonuria
Hyperphenylalaninemia, non-PKU mild

Genes at HGMD

Summary

Number of Variants: 11
Number of Genes: 9

Export to: CSV
  • Page 1 of 1

ADH1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6-na1287 both 4 rs1229984
dbSNP Clinvar 		100239319 32738.77 T C . 1/1 3436 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84145 0.84150 0.03652 0.65 0.00 None None None None None None ADH1B|0.074839204|56.32%

COL11A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6-na1287 both 1 rs1676486
dbSNP Clinvar 		103354138 32738.77 A G . 0/1 2656 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78295 0.78290 0.19299 1.00 0.00 None None None None None None COL11A1|0.697613912|8.57%

CYP1B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6-na1287 both 2 rs1056836
dbSNP Clinvar 		38298203 32738.77 C G . 0/1 4880 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61482 0.61480 0.44556 0.34 0.01 None None None None None None CYP1B1|0.952124399|2.18%
View 6-na1287 both 2 rs10012
dbSNP Clinvar 		38302390 32738.77 G C . 0/1 8456 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37480 0.37480 0.34985 0.39 0.00 None None None None None None CYP1B1|0.952124399|2.18%

IL13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6-na1287 both 5 rs20541
dbSNP Clinvar 		131995964 32738.77 A G . 0/1 8865 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73003 0.73000 0.18730 0.28 0.00 None None None None None None IL13|0.004162767|86.79%

LRP5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6-na1287 both 11 rs3736228
dbSNP Clinvar 		68201295 32738.77 C T . 0/1 9031 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11601 0.11600 0.10923 0.22 0.01 None None None None None None LRP5|0.688053439|8.86%

MC1R
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6-na1287 both 16 rs885479
dbSNP Clinvar 		89986154 32738.77 G A . 0/1 9994 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19129 0.19130 0.03707 0.30 0.01 None None None None None None MC1R|0.013226594|78.34%,TUBB3|0.052450362|61.93%

MTHFR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6-na1287 both 1 rs1801133
dbSNP Clinvar 		11856378 32738.77 G A . 0/1 7496 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24541 0.24540 0.27057 0.00 0.94 None None None None None None MTHFR|0.736730973|7.44%
View 6-na1287 both 1 rs1801131
dbSNP Clinvar 		11854476 32738.77 T G . 0/1 9195 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24940 0.24940 0.25957 0.14 0.01 None None None None None None MTHFR|0.736730973|7.44%

PAH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6-na1287 both 12 rs5030860
dbSNP Clinvar 		103234252 32738.77 T C . 0/1 3202 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.00031 0.00 1.00 None None None None None None PAH|0.397123463|20.97%

PTPN22
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6-na1287 both 1 rs2476601
dbSNP Clinvar 		114377568 32738.77 A G . 1/1 6656 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97264 0.97260 0.06835 1.00 0.00 None None None None None None PTPN22|0.124440937|46.74%
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