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rs869025587

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025587(A;A)
Make rs869025587(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position28360528
GeneMIR4723, TMEM199
is asnp
is mentioned by
dbSNPrs869025587
ebirs869025587
HLIrs869025587
Exacrs869025587
Varsomers869025587
Maprs869025587
PheGenIrs869025587
hapmaprs869025587
1000 genomesrs869025587
hgdprs869025587
ensemblrs869025587
gopubmedrs869025587
geneviewrs869025587
scholarrs869025587
googlers869025587
pharmgkbrs869025587
gwascentralrs869025587
openSNPrs869025587
23andMers869025587
23andMe allrs869025587
SNP Nexus

SNPshotrs869025587
SNPdbers869025587
MSV3drs869025587
GWAS Ctlgrs869025587
Max Magnitude0
ClinVar
Risk rs869025587(A;A)
Alt rs869025587(A;A)
Reference rs869025587(G;G)
Significance Pathogenic
Disease CONGENITAL DISORDER OF GLYCOSYLATION Congenital disorders of glycosylation type II
Variation info
Gene TMEM199 MIR4723
CLNDBN CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp Congenital disorders of glycosylation type II
Reversed 0
HGVS NC_000017.10:g.26687551G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000208655.1, RCV000210786.1,