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rs193302868

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193302868(A;A)
Make rs193302868(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position65867061
GeneEFEMP2
is asnp
is mentioned by
dbSNPrs193302868
ebirs193302868
HLIrs193302868
Exacrs193302868
Varsomers193302868
Maprs193302868
PheGenIrs193302868
hapmaprs193302868
1000 genomesrs193302868
hgdprs193302868
ensemblrs193302868
gopubmedrs193302868
geneviewrs193302868
scholarrs193302868
googlers193302868
pharmgkbrs193302868
gwascentralrs193302868
openSNPrs193302868
23andMers193302868
23andMe allrs193302868
SNP Nexus

SNPshotrs193302868
SNPdbers193302868
MSV3drs193302868
GWAS Ctlgrs193302868
Max Magnitude0
ClinVar
Risk rs193302868(A;A)
Alt rs193302868(A;A)
Reference rs193302868(G;G)
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.65634532C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032266.1, RCV000033128.2,