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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
dbSNP (classic)rs28937587
ClinGenrs28937587
ebirs28937587
HLIrs28937587
Exacrs28937587
Gnomadrs28937587
Varsomers28937587
LitVarrs28937587
Maprs28937587
PheGenIrs28937587
Biobankrs28937587
1000 genomesrs28937587
hgdprs28937587
ensemblrs28937587
geneviewrs28937587
scholarrs28937587
googlers28937587
pharmgkbrs28937587
gwascentralrs28937587
openSNPrs28937587
23andMers28937587
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 UniProtKB (protein)
CLNACC RCV000006773.3,