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rs387907221

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907221(A;A)
Make rs387907221(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position55411783
GeneTMEM165
is asnp
is mentioned by
dbSNPrs387907221
ebirs387907221
HLIrs387907221
Exacrs387907221
Varsomers387907221
Maprs387907221
PheGenIrs387907221
hapmaprs387907221
1000 genomesrs387907221
hgdprs387907221
ensemblrs387907221
gopubmedrs387907221
geneviewrs387907221
scholarrs387907221
googlers387907221
pharmgkbrs387907221
gwascentralrs387907221
openSNPrs387907221
23andMers387907221
23andMe allrs387907221
SNP Nexus

SNPshotrs387907221
SNPdbers387907221
MSV3drs387907221
GWAS Ctlgrs387907221
Max Magnitude0
ClinVar
Risk rs387907221(A;A)
Alt rs387907221(A;A)
Reference rs387907221(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.56277950G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029180.3,