Research Article

Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene

Table 1

Frequency of 7 markers with alternative allele as major allele found in common ROH region.

ChromPosition (GRCh38)rsidRef-baseAlt-baseCase ()Control () valuePopulation level databases
gnomAD v3.1.21000GGA100K

451817441rs1910739TC0.85290.5586<0.00010.36590.53060.5023
451818654rs2874073AC0.85290.83980.77170.86940.89700.8907
451918512rs6852236AG0.85290.5664<0.00010.41320.51640.5181
452102311rs13122418GA0.85290.6250<0.00010.62350.54450.5941
452117235rs11133358AG0.85290.98830.45990.80380.78590.9543
452195229rs13353646CT0.85290.3945<0.00010.17460.19330.2177
452269957rs6554360CT0.83820.6094<0.00010.42970.48600.5800