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rs193302869

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193302869(A;T)
Make rs193302869(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position65870649
GeneEFEMP2
is asnp
is mentioned by
dbSNPrs193302869
ebirs193302869
HLIrs193302869
Exacrs193302869
Varsomers193302869
Maprs193302869
PheGenIrs193302869
hapmaprs193302869
1000 genomesrs193302869
hgdprs193302869
ensemblrs193302869
gopubmedrs193302869
geneviewrs193302869
scholarrs193302869
googlers193302869
pharmgkbrs193302869
gwascentralrs193302869
openSNPrs193302869
23andMers193302869
23andMe allrs193302869
SNP Nexus

SNPshotrs193302869
SNPdbers193302869
MSV3drs193302869
GWAS Ctlgrs193302869
Max Magnitude0
ClinVar
Risk rs193302869(T;T)
Alt rs193302869(T;T)
Reference rs193302869(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.65638120T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032270.1, RCV000033126.3,