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+ Genes 8

Genes:
BBS2, CFH, CYP2D6, DPYD, F5, HEXB, HPD, SLC45A2,

+ Genes associated with diseases 8

Genes at Omim

BBS2, CFH, CYP2D6, DPYD, F5, HEXB, HPD, SLC45A2,
BBS2 Bardet-Biedl syndrome 2, 615981 (3)
Retinitis pigmentosa 74, 616562 (3)
CFH Basal laminar drusen, 126700 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3)
{Macular degeneration, age-related, 4}, 610698 (3)
Complement factor H deficiency, 609814 (3)
CYP2D6 {Codeine sensitivity}, 608902 (3)
{Debrisoquine sensitivity}, 608902 (3)
DPYD Dihydropyrimidine dehydrogenase deficiency, 274270 (3)
5-fluorouracil toxicity, 274270 (3)
F5 {Budd-Chiari syndrome}, 600880 (3)
{Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)
Factor V deficiency, 227400 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
{Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3)
Thrombophilia due to activated protein C resistance, 188055 (3)
HEXB Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
HPD Hawkinsinuria, 140350 (3)
Tyrosinemia, type III, 276710 (3)
SLC45A2 Albinism, oculocutaneous, type IV, 606574 (3)
[Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)

Genes at Clinical Genomics Database

BBS2, CFH, CYP2D6, DPYD, F5, HEXB, HPD, SLC45A2,
BBS2 Bardet-Biedl syndrome 2
Retinitis pigmentosa 74
CFH Hemolytic uremic syndrome, atypical
Complement factor H deficiency
CYP2D6 Drug metabolism, CYP2CD6-related
DPYD 5-fluorouracil toxicity
F5 Thrombophilia due to activated protein C resistance
Factor V deficiency
HEXB Sandhoff disease
HPD Tyrosinemia, type III
Hawksinuria
SLC45A2 Oculocutaneous albinism, type IV
Skin/hair/eye pigmentation 5

Genes at HGMD

Summary

Number of Variants: 9
Number of Genes: 8

Export to: CSV
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BBS2
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 index31 16 rs4784677
dbSNP Clinvar 		56548501 2364.77 C T . 1/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.99641 0.99640 0.00554 1.00 0.00 1.36 None None rs4784677 -5 Bardet-Biedl_syndrome_2 None BBS2|0.509758209|15.38%

CFH
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 index31 1 rs1061170
dbSNP Clinvar 		196659237 653.77 C T . 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.73343 0.73340 0.37567 1.00 0.00 -3.92 None None rs1061170 -5 Basal_laminar_drusen None CFH|0.021522909|73.44%

CYP2D6
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 index31 22 rs16947
dbSNP Clinvar 		42523943 481.77 A G . 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.64078 0.64080 0.40045 0.44 0.00 None None rs16947 -5 Debrisoquine\x2c_ultrarapid_metabolism_of None CYP2D6|0.040319287|65.66%
View index31 22 rs1135840
dbSNP Clinvar 		42522613 355.77 G C . 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.40116 0.40120 0.40832 0.87 0.02 None None rs1135840 -5 Debrisoquine\x2c_ultrarapid_metabolism_of None CYP2D6|0.040319287|65.66%

DPYD
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 index31 1 rs1801265
dbSNP Clinvar 		98348885 2019.77 G A . 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.73982 0.73980 0.28410 0.18 0.01 None None rs1801265 -5 Dihydropyrimidine_dehydrogenase_deficiency None DPYD|0.966314405|1.82%

F5
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 index31 1 rs6025
dbSNP Clinvar 		169519049 1170.77 T C . 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.99401 0.99400 0.02138 1.00 0.00 None None rs6025 -5 Thrombophilia_due_to_factor_V_Leiden None F5|0.038758204|66.18%

HEXB
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 index31 5 rs820878
dbSNP Clinvar 		73981270 3473.77 T C . 1/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.98143 0.98140 0.03066 1.00 0.00 -0.64 None None rs820878 -5 Sandhoff_disease\x2c_infantile_type None HEXB|0.021508316|73.45%

HPD
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 index31 12 rs1154510
dbSNP Clinvar 		122295335 1856.77 T C . 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.87640 0.87640 0.09911 1.00 0.00 -0.22 None None rs1154510 -5 4-Alpha-hydroxyphenylpyruvate_hydroxylase_deficiency None HPD|0.165719703|40.84%

SLC45A2
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 index31 5 rs16891982
dbSNP Clinvar 		33951693 347.77 C G . 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.27496 0.27500 0.30317 0.00 0.97 5.88 None None rs16891982 -5 Skin/hair/eye_pigmentation\x2c_variation_in\x2c_5 None SLC45A2|0.156382322|42.11%
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