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rs193302870

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193302870(-;-)
Make rs193302870(-;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position65870151
GeneEFEMP2
is asnp
is mentioned by
dbSNPrs193302870
ebirs193302870
HLIrs193302870
Exacrs193302870
Varsomers193302870
Maprs193302870
PheGenIrs193302870
hapmaprs193302870
1000 genomesrs193302870
hgdprs193302870
ensemblrs193302870
gopubmedrs193302870
geneviewrs193302870
scholarrs193302870
googlers193302870
pharmgkbrs193302870
gwascentralrs193302870
openSNPrs193302870
23andMers193302870
23andMe allrs193302870
SNP Nexus

SNPshotrs193302870
SNPdbers193302870
MSV3drs193302870
GWAS Ctlgrs193302870
Max Magnitude0
ClinVar
Risk rs193302870(;)
Alt rs193302870(;)
Reference rs193302870(C;C)
Significance Pathogenic
Disease Autosomal recessive cutis laxa type IA
Variation info
Gene EFEMP2
CLNDBN Autosomal recessive cutis laxa type IA
Reversed 1
HGVS NC_000011.9:g.65637622delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000032271.1,