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rs193302867

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193302867(A;A)
Make rs193302867(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position65870650
GeneEFEMP2
is asnp
is mentioned by
dbSNPrs193302867
ebirs193302867
HLIrs193302867
Exacrs193302867
Varsomers193302867
Maprs193302867
PheGenIrs193302867
hapmaprs193302867
1000 genomesrs193302867
hgdprs193302867
ensemblrs193302867
gopubmedrs193302867
geneviewrs193302867
scholarrs193302867
googlers193302867
pharmgkbrs193302867
gwascentralrs193302867
openSNPrs193302867
23andMers193302867
23andMe allrs193302867
SNP Nexus

SNPshotrs193302867
SNPdbers193302867
MSV3drs193302867
GWAS Ctlgrs193302867
Max Magnitude0
ClinVar
Risk rs193302867(A,C;A,C)
Alt rs193302867(A,C;A,C)
Reference rs193302867(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.65638121C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032269.1, RCV000033125.4,