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rs397509432

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509432(G;T)
Make rs397509432(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position45542278
GeneFBLN1
is asnp
is mentioned by
dbSNPrs397509432
ebirs397509432
HLIrs397509432
Exacrs397509432
Varsomers397509432
Maprs397509432
PheGenIrs397509432
hapmaprs397509432
1000 genomesrs397509432
hgdprs397509432
ensemblrs397509432
gopubmedrs397509432
geneviewrs397509432
scholarrs397509432
googlers397509432
pharmgkbrs397509432
gwascentralrs397509432
openSNPrs397509432
23andMers397509432
23andMe allrs397509432
SNP Nexus

SNPshotrs397509432
SNPdbers397509432
MSV3drs397509432
GWAS Ctlgrs397509432
Max Magnitude0
ClinVar
Risk rs397509432(T;T)
Alt rs397509432(T;T)
Reference rs397509432(G;G)
Significance Pathogenic
Disease Autosomal recessive syndrome of syndactyly not provided
Variation info
Gene FBLN1
CLNDBN Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects not provided
Reversed 0
HGVS NC_000022.10:g.45938158G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054444.1, RCV000128616.2,