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rs193302864

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193302864(A;C)
Make rs193302864(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position65869976
GeneEFEMP2
is asnp
is mentioned by
dbSNPrs193302864
ebirs193302864
HLIrs193302864
Exacrs193302864
Varsomers193302864
Maprs193302864
PheGenIrs193302864
hapmaprs193302864
1000 genomesrs193302864
hgdprs193302864
ensemblrs193302864
gopubmedrs193302864
geneviewrs193302864
scholarrs193302864
googlers193302864
pharmgkbrs193302864
gwascentralrs193302864
openSNPrs193302864
23andMers193302864
23andMe allrs193302864
SNP Nexus

SNPshotrs193302864
SNPdbers193302864
MSV3drs193302864
GWAS Ctlgrs193302864
Max Magnitude0
ClinVar
Risk rs193302864(C;C)
Alt rs193302864(C;C)
Reference rs193302864(A;A)
Significance Pathogenic
Disease Autosomal recessive cutis laxa type IA Autosomal recessive cutis laxa type 1B
Variation info
Gene EFEMP2
CLNDBN Autosomal recessive cutis laxa type IA Autosomal recessive cutis laxa type 1B
Reversed 1
HGVS NC_000011.9:g.65637447T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000032272.1, RCV000034873.4,