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rs387907371

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907371(A;A)
Make rs387907371(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154354825
GeneFLNA
is asnp
is mentioned by
dbSNPrs387907371
ebirs387907371
HLIrs387907371
Exacrs387907371
Varsomers387907371
Maprs387907371
PheGenIrs387907371
hapmaprs387907371
1000 genomesrs387907371
hgdprs387907371
ensemblrs387907371
gopubmedrs387907371
geneviewrs387907371
scholarrs387907371
googlers387907371
pharmgkbrs387907371
gwascentralrs387907371
openSNPrs387907371
23andMers387907371
23andMe allrs387907371
SNP Nexus

SNPshotrs387907371
SNPdbers387907371
MSV3drs387907371
GWAS Ctlgrs387907371
Max Magnitude0
ClinVar
Risk rs387907371(A;A)
Alt rs387907371(A;A)
Reference rs387907371(G;G)
Significance Pathogenic
Disease Terminal osseous dysplasia
Variation info
Gene FLNA
CLNDBN Terminal osseous dysplasia
Reversed 1
HGVS NC_000023.10:g.153583193C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012542.23,


[PMID 20598277OA-icon.png] Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.