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rs193302866

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193302866(A;A)
Make rs193302866(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position65868557
GeneEFEMP2
is asnp
is mentioned by
dbSNPrs193302866
ebirs193302866
HLIrs193302866
Exacrs193302866
Varsomers193302866
Maprs193302866
PheGenIrs193302866
hapmaprs193302866
1000 genomesrs193302866
hgdprs193302866
ensemblrs193302866
gopubmedrs193302866
geneviewrs193302866
scholarrs193302866
googlers193302866
pharmgkbrs193302866
gwascentralrs193302866
openSNPrs193302866
23andMers193302866
23andMe allrs193302866
SNP Nexus

SNPshotrs193302866
SNPdbers193302866
MSV3drs193302866
GWAS Ctlgrs193302866
Max Magnitude0
ClinVar
Risk rs193302866(A;A)
Alt rs193302866(A;A)
Reference rs193302866(G;G)
Significance Pathogenic
Disease Autosomal recessive cutis laxa type 1B Autosomal recessive cutis laxa type IA
Variation info
Gene EFEMP2
CLNDBN Autosomal recessive cutis laxa type 1B Autosomal recessive cutis laxa type IA
Reversed 1
HGVS NC_000011.9:g.65636028C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023384.3, RCV000032274.1,