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

rs797044806

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044806(-;C)
Make rs797044806(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position50354471
GeneXYLT2
is asnp
is mentioned by
dbSNPrs797044806
ClinGenrs797044806
ebirs797044806
HLIrs797044806
Exacrs797044806
Varsomers797044806
Maprs797044806
PheGenIrs797044806
hapmaprs797044806
1000 genomesrs797044806
hgdprs797044806
ensemblrs797044806
gopubmedrs797044806
geneviewrs797044806
scholarrs797044806
googlers797044806
pharmgkbrs797044806
gwascentralrs797044806
openSNPrs797044806
23andMers797044806
23andMe allrs797044806
SNP Nexus

SNPshotrs797044806
SNPdbers797044806
MSV3drs797044806
GWAS Ctlgrs797044806
Max Magnitude0
ClinVar
Risk rs797044806(C;C)
Alt rs797044806(C;C)
Reference Rs797044806(-;-)
Significance Pathogenic
Disease Spondyloocular syndrome
Variation info
Gene XYLT2
CLNDBN Spondyloocular syndrome, autosomal recessive
Reversed 0
HGVS NC_000017.10:g.48431832dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000190243.2,