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rs119489102

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119489102(C;T)
Make rs119489102(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position65868522
GeneEFEMP2
is asnp
is mentioned by
dbSNPrs119489102
ebirs119489102
HLIrs119489102
Exacrs119489102
Varsomers119489102
Maprs119489102
PheGenIrs119489102
hapmaprs119489102
1000 genomesrs119489102
hgdprs119489102
ensemblrs119489102
gopubmedrs119489102
geneviewrs119489102
scholarrs119489102
googlers119489102
pharmgkbrs119489102
gwascentralrs119489102
openSNPrs119489102
23andMers119489102
23andMe allrs119489102
SNP Nexus

SNPshotrs119489102
SNPdbers119489102
MSV3drs119489102
GWAS Ctlgrs119489102
Max Magnitude0
OMIM604633
Desc
Variant0002
Relatedalso
ClinVar
Risk rs119489102(T;T)
Alt rs119489102(T;T)
Reference rs119489102(C;C)
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.65635993G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005757.2, RCV000032275.1,