Variant #0000000079 (NC_000001.10:g.17427C>A)

Chromosome	1
Affects function (as reported)	Not classified
Affects function (by curator)	Not classified
DNA change (genomic) (Relative to hg19 / GRCh37)	g.17427C>A
DB-ID	-
dbSNP ID	-
gnomAD frequency	1/95596
gnomAD homozygote count	0/47796
Average frequency (gnomAD v.2.1.1)	1.0E-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

GnomAD v.2.1.1 dataset - Leiden Open Variation Database (LOVD)