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rs397514683

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514683(C;T)
Make rs397514683(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position65869905
GeneEFEMP2
is asnp
is mentioned by
dbSNPrs397514683
ebirs397514683
HLIrs397514683
Exacrs397514683
Varsomers397514683
Maprs397514683
PheGenIrs397514683
hapmaprs397514683
1000 genomesrs397514683
hgdprs397514683
ensemblrs397514683
gopubmedrs397514683
geneviewrs397514683
scholarrs397514683
googlers397514683
pharmgkbrs397514683
gwascentralrs397514683
openSNPrs397514683
23andMers397514683
23andMe allrs397514683
SNP Nexus

SNPshotrs397514683
SNPdbers397514683
MSV3drs397514683
GWAS Ctlgrs397514683
Max Magnitude0
ClinVar
Risk rs397514683(T;T)
Alt rs397514683(T;T)
Reference rs397514683(C;C)
Significance Pathogenic
Disease Autosomal recessive cutis laxa type 1B
Variation info
Gene EFEMP2
CLNDBN Autosomal recessive cutis laxa type 1B
Reversed 1
HGVS NC_000011.9:g.65637376G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000034874.4,