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rs387907214

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907214(C;T)
Make rs387907214(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position177521274
GeneAGPS
is asnp
is mentioned by
dbSNPrs387907214
ebirs387907214
HLIrs387907214
Exacrs387907214
Varsomers387907214
Maprs387907214
PheGenIrs387907214
hapmaprs387907214
1000 genomesrs387907214
hgdprs387907214
ensemblrs387907214
gopubmedrs387907214
geneviewrs387907214
scholarrs387907214
googlers387907214
pharmgkbrs387907214
gwascentralrs387907214
openSNPrs387907214
23andMers387907214
23andMe allrs387907214
SNP Nexus

SNPshotrs387907214
SNPdbers387907214
MSV3drs387907214
GWAS Ctlgrs387907214
Max Magnitude0
ClinVar
Risk rs387907214(T;T)
Alt rs387907214(T;T)
Reference rs387907214(C;C)
Significance Pathogenic
Disease Rhizomelic chondrodysplasia punctata type 3
Variation info
Gene AGPS
CLNDBN Rhizomelic chondrodysplasia punctata type 3
Reversed 0
HGVS NC_000002.11:g.178386002C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000029144.2,