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rs118203996

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203996(C;T)
Make rs118203996(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position42755616
GeneLEPRE1
is asnp
is mentioned by
dbSNPrs118203996
ebirs118203996
HLIrs118203996
Exacrs118203996
Varsomers118203996
Maprs118203996
PheGenIrs118203996
hapmaprs118203996
1000 genomesrs118203996
hgdprs118203996
ensemblrs118203996
gopubmedrs118203996
geneviewrs118203996
scholarrs118203996
googlers118203996
pharmgkbrs118203996
gwascentralrs118203996
openSNPrs118203996
23andMers118203996
23andMe allrs118203996
SNP Nexus

SNPshotrs118203996
SNPdbers118203996
MSV3drs118203996
GWAS Ctlgrs118203996
Max Magnitude0
OMIM610339
Desc
Variant0006
Relatedalso
ClinVar
Risk rs118203996(T;T)
Alt rs118203996(T;T)
Reference rs118203996(C;C)
Significance Pathogenic
Disease Osteogenesis imperfecta type 8 not provided
Variation info
Gene LEPRE1 P3H1
CLNDBN Osteogenesis imperfecta type 8 not provided
Reversed 1
HGVS NC_000001.10:g.43221287G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001320.3, RCV000224137.1,