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rs587777367

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777367(A;A)
Make rs587777367(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position17134708
GeneLOC102723692, XYLT1
is asnp
is mentioned by
dbSNPrs587777367
dbSNP (classic)rs587777367
ClinGenrs587777367
ebirs587777367
HLIrs587777367
Exacrs587777367
Gnomadrs587777367
Varsomers587777367
LitVarrs587777367
Maprs587777367
PheGenIrs587777367
Biobankrs587777367
1000 genomesrs587777367
hgdprs587777367
ensemblrs587777367
geneviewrs587777367
scholarrs587777367
googlers587777367
pharmgkbrs587777367
gwascentralrs587777367
openSNPrs587777367
23andMers587777367
SNPshotrs587777367
SNPdbers587777367
MSV3drs587777367
GWAS Ctlgrs587777367
Max Magnitude0
ClinVar
Risk rs587777367(A;A) Rs587777367(G;G)
Alt rs587777367(A;A) Rs587777367(G;G)
Reference Rs587777367(C;C)
Significance Pathogenic
Disease Desbuquois dysplasia 2
Variation info
Gene LOC102723692 XYLT1
CLNDBN Desbuquois dysplasia 2
Reversed 1
HGVS NC_000016.9:g.17228565G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000115034.2,