Have questions? Visit https://www.reddit.com/r/SNPedia

rs796052130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs796052130(C;C)
Make rs796052130(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position185408399
GeneC4orf47, UFSP2
is asnp
is mentioned by
dbSNPrs796052130
dbSNP (classic)rs796052130
ClinGenrs796052130
ebirs796052130
HLIrs796052130
Exacrs796052130
Gnomadrs796052130
Varsomers796052130
LitVarrs796052130
Maprs796052130
PheGenIrs796052130
Biobankrs796052130
1000 genomesrs796052130
hgdprs796052130
ensemblrs796052130
geneviewrs796052130
scholarrs796052130
googlers796052130
pharmgkbrs796052130
gwascentralrs796052130
openSNPrs796052130
23andMers796052130
SNPshotrs796052130
SNPdbers796052130
MSV3drs796052130
GWAS Ctlgrs796052130
Max Magnitude0
ClinVar
Risk rs796052130(C;C)
Alt rs796052130(C;C)
Reference Rs796052130(T;T)
Significance Pathogenic
Disease Hip dysplasia
Variation info
Gene UFSP2
CLNDBN Hip dysplasia, beukes type
Reversed 1
HGVS NC_000004.11:g.186329553A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000186597.2,