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rs28937587

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28937587(C;C)
Make rs28937587(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position58109627
GeneFLNB
is asnp
is mentioned by
dbSNPrs28937587
ebirs28937587
HLIrs28937587
Exacrs28937587
Varsomers28937587
Maprs28937587
PheGenIrs28937587
hapmaprs28937587
1000 genomesrs28937587
hgdprs28937587
ensemblrs28937587
gopubmedrs28937587
geneviewrs28937587
scholarrs28937587
googlers28937587
pharmgkbrs28937587
gwascentralrs28937587
openSNPrs28937587
23andMers28937587
23andMe allrs28937587
SNP Nexus

SNPshotrs28937587
SNPdbers28937587
MSV3drs28937587
GWAS Ctlgrs28937587
Max Magnitude0
OMIM603381
DescATELOSTEOGENESIS, TYPE III
Variant0008
Relatedalso


ClinVar
Risk rs28937587(C;C)
Alt rs28937587(C;C)
Reference rs28937587(G;G)
Significance Pathogenic
Disease Atelosteogenesis type 3
Variation info
Gene FLNB
CLNDBN Atelosteogenesis type 3
Reversed 0
HGVS NC_000003.11:g.58095354G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006773.3,