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rs727504229

From SNPedia

Orientationminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs727504229(CA;GT)
Make rs727504229(GT;GT)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position36098317
GeneCOL8A2
is asnp
is mentioned by
dbSNPrs727504229
ebirs727504229
HLIrs727504229
Exacrs727504229
Varsomers727504229
Maprs727504229
PheGenIrs727504229
hapmaprs727504229
1000 genomesrs727504229
hgdprs727504229
ensemblrs727504229
gopubmedrs727504229
geneviewrs727504229
scholarrs727504229
googlers727504229
pharmgkbrs727504229
gwascentralrs727504229
openSNPrs727504229
23andMers727504229
23andMe allrs727504229
SNP Nexus

SNPshotrs727504229
SNPdbers727504229
MSV3drs727504229
GWAS Ctlgrs727504229
Max Magnitude0
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,