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rs1048971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1048971(A;A)
Make rs1048971(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position207472977
GeneCR2
is asnp
is mentioned by
dbSNPrs1048971
dbSNP (classic)rs1048971
ClinGenrs1048971
ebirs1048971
HLIrs1048971
Exacrs1048971
Gnomadrs1048971
Varsomers1048971
LitVarrs1048971
Maprs1048971
PheGenIrs1048971
Biobankrs1048971
1000 genomesrs1048971
hgdprs1048971
ensemblrs1048971
geneviewrs1048971
scholarrs1048971
googlers1048971
pharmgkbrs1048971
gwascentralrs1048971
openSNPrs1048971
23andMers1048971
SNPshotrs1048971
SNPdbers1048971
MSV3drs1048971
GWAS Ctlgrs1048971
GMAF0.4022
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 19387458OA-icon.png] Complement receptor 2 polymorphisms associated with systemic lupus erythematosus modulate alternative splicing

OMIM120650
DescCOMPLEMENT COMPONENT RECEPTOR 2; CR2
Variant
Relatedalso
OMIM120650
Desc
Variant0001
Relatedalso

[PMID 17360460OA-icon.png] Association of a common complement receptor 2 haplotype with increased risk of systemic lupus erythematosus.

[PMID 21347408OA-icon.png] Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease.


ClinVar
Risk rs1048971(A;A)
Alt rs1048971(A;A)
Reference Rs1048971(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene CR2
CLNDBN not specified
Reversed 0
HGVS NC_000001.10:g.207646322G>A
CLNSRC
CLNACC RCV000454637.1,