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

rs387907222

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907222(C;T)
Make rs387907222(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position55411782
GeneTMEM165
is asnp
is mentioned by
dbSNPrs387907222
ebirs387907222
HLIrs387907222
Exacrs387907222
Varsomers387907222
Maprs387907222
PheGenIrs387907222
hapmaprs387907222
1000 genomesrs387907222
hgdprs387907222
ensemblrs387907222
gopubmedrs387907222
geneviewrs387907222
scholarrs387907222
googlers387907222
pharmgkbrs387907222
gwascentralrs387907222
openSNPrs387907222
23andMers387907222
23andMe allrs387907222
SNP Nexus

SNPshotrs387907222
SNPdbers387907222
MSV3drs387907222
GWAS Ctlgrs387907222
Max Magnitude0
ClinVar
Risk rs387907222(T;T)
Alt rs387907222(T;T)
Reference rs387907222(C;C)
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.56277949C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000029181.3,