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rs793888506

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs793888506(A;A)
Make rs793888506(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position55418167
GeneTMEM165
is asnp
is mentioned by
dbSNPrs793888506
ebirs793888506
HLIrs793888506
Exacrs793888506
Varsomers793888506
Maprs793888506
PheGenIrs793888506
hapmaprs793888506
1000 genomesrs793888506
hgdprs793888506
ensemblrs793888506
gopubmedrs793888506
geneviewrs793888506
scholarrs793888506
googlers793888506
pharmgkbrs793888506
gwascentralrs793888506
openSNPrs793888506
23andMers793888506
23andMe allrs793888506
SNP Nexus

SNPshotrs793888506
SNPdbers793888506
MSV3drs793888506
GWAS Ctlgrs793888506
Max Magnitude0
ClinVar
Risk rs793888506(A;A)
Alt rs793888506(A;A)
Reference rs793888506(G;G)
Significance Pathogenic
Disease Congenital disorder of glycosylation type 2k
Variation info
Gene TMEM165
CLNDBN Congenital disorder of glycosylation type 2k
Reversed 0
HGVS NC_000004.11:g.56284334G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029179.3,