rs727504229

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(CA;CA)	0	common in clinvar

Make rs727504229(CA;GT)

Make rs727504229(GT;GT)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

36098317

Gene

COL8A2

is a	snp
is	mentioned by
dbSNP	rs727504229
dbSNP (classic)	rs727504229
ClinGen	rs727504229
ebi	rs727504229
HLI	rs727504229
Exac	rs727504229
Gnomad	rs727504229
Varsome	rs727504229
LitVar	rs727504229
Map	rs727504229
PheGenI	rs727504229
Biobank	rs727504229
1000 genomes	rs727504229
hgdp	rs727504229
ensembl	rs727504229
geneview	rs727504229
scholar	rs727504229
google	rs727504229
pharmgkb	rs727504229
gwascentral	rs727504229
openSNP	rs727504229
23andMe	rs727504229
SNPshot	rs727504229
SNPdbe	rs727504229
MSV3d	rs727504229
GWAS Ctlg	rs727504229

Max Magnitude

0

ClinVar
Risk	rs727504229(GT;GT)
Alt	rs727504229(GT;GT)
Reference	Rs727504229(CA;CA)
Significance	Pathogenic
Disease	Corneal dystrophy
Variation	info
Gene	COL8A2
CLNDBN	Corneal dystrophy, Fuchs endothelial 1
Reversed	1
HGVS	NC_000001.10:g.36563918_36563919delTGinsAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000154184.2,