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rs886037827

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886037827(C;T)
Make rs886037827(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position29269080
GeneFAM189A1, NSMCE3
is asnp
is mentioned by
dbSNPrs886037827
dbSNP (classic)rs886037827
ClinGenrs886037827
ebirs886037827
HLIrs886037827
Exacrs886037827
Gnomadrs886037827
Varsomers886037827
LitVarrs886037827
Maprs886037827
PheGenIrs886037827
Biobankrs886037827
1000 genomesrs886037827
hgdprs886037827
ensemblrs886037827
geneviewrs886037827
scholarrs886037827
googlers886037827
pharmgkbrs886037827
gwascentralrs886037827
openSNPrs886037827
23andMers886037827
SNPshotrs886037827
SNPdbers886037827
MSV3drs886037827
GWAS Ctlgrs886037827
Max Magnitude0
ClinVar
Risk rs886037827(T;T)
Alt rs886037827(T;T)
Reference Rs886037827(C;C)
Significance Pathogenic
Disease Lung damage Lung disease
Variation info
Gene NSMCE3 FAM189A1
CLNDBN Lung damage, immunodeficiency and chromosome breakage syndrome Lung disease, immunodeficiency, and chromosome breakage syndrome
Reversed 1
HGVS NC_000015.9:g.29561284G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000258643.1, RCV000412556.1,