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rs147948835

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147948835(C;T)
Make rs147948835(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position95955996
GeneERCC6L2
is asnp
is mentioned by
dbSNPrs147948835
ebirs147948835
HLIrs147948835
Exacrs147948835
Varsomers147948835
Maprs147948835
PheGenIrs147948835
hapmaprs147948835
1000 genomesrs147948835
hgdprs147948835
ensemblrs147948835
gopubmedrs147948835
geneviewrs147948835
scholarrs147948835
googlers147948835
pharmgkbrs147948835
gwascentralrs147948835
openSNPrs147948835
23andMers147948835
23andMe allrs147948835
SNP Nexus

SNPshotrs147948835
SNPdbers147948835
MSV3drs147948835
GWAS Ctlgrs147948835
Max Magnitude0
ClinVar
Risk rs147948835(T;T)
Alt rs147948835(T;T)
Reference rs147948835(C;C)
Significance Pathogenic
Disease Bone marrow failure syndrome 2
Variation info
Gene ERCC6L2
CLNDBN Bone marrow failure syndrome 2
Reversed 0
HGVS NC_000009.11:g.98718278C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000111474.2,