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rs193302865

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs193302865(-;CCGC)
Make rs193302865(CCGC;CCGC)
ReferenceGRCh38 38.1/141
Chromosome11
Position65867957
GeneEFEMP2
is asnp
is mentioned by
dbSNPrs193302865
dbSNP (old)rs193302865
ClinGenrs193302865
ebirs193302865
HLIrs193302865
Exacrs193302865
Gnomadrs193302865
Varsomers193302865
Maprs193302865
PheGenIrs193302865
Biobankrs193302865
1000 genomesrs193302865
hgdprs193302865
ensemblrs193302865
gopubmedrs193302865
geneviewrs193302865
scholarrs193302865
googlers193302865
pharmgkbrs193302865
gwascentralrs193302865
openSNPrs193302865
23andMers193302865
23andMe allrs193302865
SNP Nexus

SNPshotrs193302865
SNPdbers193302865
MSV3drs193302865
GWAS Ctlgrs193302865
Max Magnitude0
ClinVar
Risk rs193302865(CCGC;CCGC)
Alt rs193302865(CCGC;CCGC)
Reference Rs193302865(-;-)
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.65635429_65635432dupGCGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005758.3, RCV000032265.1,