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rs2227935

From SNPedia

Orientationplus
Stabilizedplus
Make rs2227935(C;C)
Make rs2227935(C;T)
Make rs2227935(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position90782869
GeneBLM
is asnp
is mentioned by
dbSNPrs2227935
dbSNP (classic)rs2227935
ClinGenrs2227935
ebirs2227935
HLIrs2227935
Exacrs2227935
Gnomadrs2227935
Varsomers2227935
LitVarrs2227935
Maprs2227935
PheGenIrs2227935
Biobankrs2227935
1000 genomesrs2227935
hgdprs2227935
ensemblrs2227935
geneviewrs2227935
scholarrs2227935
googlers2227935
pharmgkbrs2227935
gwascentralrs2227935
openSNPrs2227935
23andMers2227935
SNPshotrs2227935
SNPdbers2227935
MSV3drs2227935
GWAS Ctlgrs2227935
Merged fromRs11852361
GMAF0.05326
Max Magnitude0
? (C;C) (C;T) (T;T) 28


ClinVar
Risk rs2227935(G;G) rs2227935(T;T)
Alt rs2227935(G;G) rs2227935(T;T)
Reference rs2227935(C;C)
Significance Other
Disease not specified Bloom syndrome
Variation info
Gene BLM
CLNDBN not specified Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91326099C>T
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000078058.9, RCV000144575.2,