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rs72656330

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72656330(A;A)
Make rs72656330(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50186913
GeneCOL1A1
is asnp
is mentioned by
dbSNPrs72656330
ebirs72656330
HLIrs72656330
Exacrs72656330
Varsomers72656330
Maprs72656330
PheGenIrs72656330
hapmaprs72656330
1000 genomesrs72656330
hgdprs72656330
ensemblrs72656330
gopubmedrs72656330
geneviewrs72656330
scholarrs72656330
googlers72656330
pharmgkbrs72656330
gwascentralrs72656330
openSNPrs72656330
23andMers72656330
23andMe allrs72656330
SNP Nexus

SNPshotrs72656330
SNPdbers72656330
MSV3drs72656330
GWAS Ctlgrs72656330
Max Magnitude0
OMIM120150
Desc
Variant0031
Relatedalso
ClinVar
Risk rs72656330(A;A)
Alt rs72656330(A;A)
Reference rs72656330(G;G)
Significance Pathogenic
Disease Osteogenesis imperfecta
Variation info
Gene COL1A1
CLNDBN Osteogenesis imperfecta, recessive perinatal lethal
Reversed 1
HGVS NC_000017.10:g.48264274C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018854.27,