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

rs387907333

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAGCTGATGCCGCTCG;GAGCTGATGCCGCTCG) 0 common in clinvar
Make rs387907333(GAGCTGATGCCGCTCG;TACCC)
Make rs387907333(TACCC;TACCC)
ReferenceGRCh38 38.1/141
Chromosome3
Position33114195
GeneCRTAP
is asnp
is mentioned by
dbSNPrs387907333
dbSNP (old)rs387907333
ClinGenrs387907333
ebirs387907333
HLIrs387907333
Exacrs387907333
Gnomadrs387907333
Varsomers387907333
Maprs387907333
PheGenIrs387907333
Biobankrs387907333
1000 genomesrs387907333
hgdprs387907333
ensemblrs387907333
gopubmedrs387907333
geneviewrs387907333
scholarrs387907333
googlers387907333
pharmgkbrs387907333
gwascentralrs387907333
openSNPrs387907333
23andMers387907333
23andMe allrs387907333
SNP Nexus

SNPshotrs387907333
SNPdbers387907333
MSV3drs387907333
GWAS Ctlgrs387907333
Max Magnitude0
ClinVar
Risk rs387907333(TACCC;TACCC)
Alt rs387907333(TACCC;TACCC)
Reference Rs387907333(GAGCTGATGCCGCTCG;GAGCTGATGCCGCTCG)
Significance Pathogenic
Disease Osteogenesis imperfecta type 7
Variation info
Gene CRTAP
CLNDBN Osteogenesis imperfecta type 7
Reversed 0
HGVS NC_000003.11:g.33155687_33155702del16insTACCC
CLNSRC OMIM Allelic Variant
CLNACC RCV000034835.4,