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rs201818754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201818754(A;A)
Make rs201818754(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position17138534
GeneLOC102723692, XYLT1
is asnp
is mentioned by
dbSNPrs201818754
ebirs201818754
HLIrs201818754
Exacrs201818754
Varsomers201818754
Maprs201818754
PheGenIrs201818754
hapmaprs201818754
1000 genomesrs201818754
hgdprs201818754
ensemblrs201818754
gopubmedrs201818754
geneviewrs201818754
scholarrs201818754
googlers201818754
pharmgkbrs201818754
gwascentralrs201818754
openSNPrs201818754
23andMers201818754
23andMe allrs201818754
SNP Nexus

SNPshotrs201818754
SNPdbers201818754
MSV3drs201818754
GWAS Ctlgrs201818754
Max Magnitude0
ClinVar
Risk rs201818754(A;A)
Alt rs201818754(A;A)
Reference rs201818754(G;G)
Significance Pathogenic
Disease Desbuquois dysplasia 2
Variation info
Gene XYLT1
CLNDBN Desbuquois dysplasia 2
Reversed 0
HGVS NC_000016.9:g.17232391G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000115037.2,