Table 3 SNPs matching HGMD mutations causing disease or other phenotypes

From: The complete genome of an individual by massively parallel DNA sequencing

HGMD accession Chromosome Coordinate HUGO symbol Gene name Cytogenetic Phenotype Zygosity
CM003589 1 97937679 DPYD Dihydropyrimidine dehydrogenase 1q22 Dihydropyrimidine dehydrogenase deficiency Heterozygous
CM950484 1 157441978 FY Duffy blood-group antigen 1q Duffy blood group antigen, absence Homozygous*
CM942034 4 619702 PDE6B Phosphodiesterase 6B, cGMP-specific, rod, beta 4p16.3 Retinitis pigmentosa 40 Heterozygous
CM021718 9 36208221 GNE UDP-N-acetylglucosamine 2-epimerase 9p Myopathy, distal, with rimmed vacuoles Heterozygous
CM980633 10 50348375 ERCC6 Excision repair cross-complementing rodent repair deficiency, complementation group 6 protein (CSB) 10q Cockayne syndrome Homozygous†
CM050716 11 76531431 MYO7A Myosin VIIA 11q13.5 Usher syndrome 1b Homozygous†
CM950928 12 46812979 PFKM Phosphofructokinase, muscle 12q13.3 Glycogen storage disease 7 Homozygous*
CM032029 14 20859880 RPGRIP1 Retinitis pigmentosa GTPase regulator interacting protein 1 14q11 Cone–rod dystrophy Heterozygous
CM984025 19 18047618 IL12RB1 Interleukin-12 receptor, beta 1 19p13.1 Mycobacterial infection Heterozygous
CM024138 19 41014441 NPHS1 Nephrosis-1, congenital, Finnish type 19q Congenital nephrotic syndrome, Finnish type Heterozygous
CM910052 22 49410905 ARSA Arylsulphatase A 22q Metachromatic leukodystrophy Heterozygous
  1. *Coverage at these SNP positions is less than 5. However, both produce benign phenotypes.
  2. †Coverage at these SNP positions is greater than 5. Both would produce severe phenotypes if they were truly homozygous.