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rs137853890

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853890(A;A)
Make rs137853890(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position42747254
GeneP3H1
is asnp
is mentioned by
dbSNPrs137853890
ebirs137853890
HLIrs137853890
Exacrs137853890
Varsomers137853890
Maprs137853890
PheGenIrs137853890
hapmaprs137853890
1000 genomesrs137853890
hgdprs137853890
ensemblrs137853890
gopubmedrs137853890
geneviewrs137853890
scholarrs137853890
googlers137853890
pharmgkbrs137853890
gwascentralrs137853890
openSNPrs137853890
23andMers137853890
23andMe allrs137853890
SNP Nexus

SNPshotrs137853890
SNPdbers137853890
MSV3drs137853890
GWAS Ctlgrs137853890
Max Magnitude0
ClinVar
Risk rs137853890(A;A)
Alt rs137853890(A;A)
Reference rs137853890(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta type 8
Variation info
Gene LEPRE1 P3H1
CLNDBN Osteogenesis imperfecta type 8
Reversed 1
HGVS NC_000001.10:g.43212925C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001321.3,