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rs587777238

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777238(A;A)
Make rs587777238(A;G)
ReferenceGRCh38 38.1/142
Chromosome11
Position59125980
GeneFAM111B
is asnp
is mentioned by
dbSNPrs587777238
ebirs587777238
HLIrs587777238
Exacrs587777238
Varsomers587777238
Maprs587777238
PheGenIrs587777238
hapmaprs587777238
1000 genomesrs587777238
hgdprs587777238
ensemblrs587777238
gopubmedrs587777238
geneviewrs587777238
scholarrs587777238
googlers587777238
pharmgkbrs587777238
gwascentralrs587777238
openSNPrs587777238
23andMers587777238
23andMe allrs587777238
SNP Nexus

SNPshotrs587777238
SNPdbers587777238
MSV3drs587777238
GWAS Ctlgrs587777238
Max Magnitude0
ClinVar
Risk rs587777238(A;A)
Alt rs587777238(A;A)
Reference rs587777238(G;G)
Significance Pathogenic
Disease Poikiloderma
Variation info
Gene FAM111B
CLNDBN Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
Reversed 0
HGVS NC_000011.9:g.58893453G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000106319.2,