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rs119489101

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119489101(A;A)
Make rs119489101(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position65871355
GeneEFEMP2
is asnp
is mentioned by
dbSNPrs119489101
ebirs119489101
HLIrs119489101
Exacrs119489101
Varsomers119489101
Maprs119489101
PheGenIrs119489101
hapmaprs119489101
1000 genomesrs119489101
hgdprs119489101
ensemblrs119489101
gopubmedrs119489101
geneviewrs119489101
scholarrs119489101
googlers119489101
pharmgkbrs119489101
gwascentralrs119489101
openSNPrs119489101
23andMers119489101
23andMe allrs119489101
SNP Nexus

SNPshotrs119489101
SNPdbers119489101
MSV3drs119489101
GWAS Ctlgrs119489101
Max Magnitude0
OMIM604633
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119489101(A;A)
Alt rs119489101(A;A)
Reference rs119489101(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.65638826C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005756.2, RCV000032268.1,