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rs587777366

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777366(A;A)
Make rs587777366(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position17141299
GeneXYLT1
is asnp
is mentioned by
dbSNPrs587777366
dbSNP (old)rs587777366
ClinGenrs587777366
ebirs587777366
HLIrs587777366
Exacrs587777366
Varsomers587777366
Maprs587777366
PheGenIrs587777366
Biobankrs587777366
1000 genomesrs587777366
hgdprs587777366
ensemblrs587777366
gopubmedrs587777366
geneviewrs587777366
scholarrs587777366
googlers587777366
pharmgkbrs587777366
gwascentralrs587777366
openSNPrs587777366
23andMers587777366
23andMe allrs587777366
SNP Nexus

SNPshotrs587777366
SNPdbers587777366
MSV3drs587777366
GWAS Ctlgrs587777366
Max Magnitude0
ClinVar
Risk rs587777366(A;A) Rs587777366(G;G)
Alt rs587777366(A;A) Rs587777366(G;G)
Reference Rs587777366(C;C)
Significance Pathogenic
Disease Desbuquois dysplasia 2
Variation info
Gene XYLT1
CLNDBN Desbuquois dysplasia 2
Reversed 1
HGVS NC_000016.9:g.17235156G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000115033.2,