Variant #0000000048 (NC_000001.10:g.13608G>C)

Chromosome 1
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.13608G>C
DB-ID -
dbSNP ID -
gnomAD frequency 1/48994
gnomAD homozygote count 0/24496
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Database submission license No license selected
Created by LOVD
Date created 2017-02-27 00:00:00 +01:00 (CET)
Date last edited N/A
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