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rs112735431

From SNPedia

Orientationplus
Stabilizedplus
Make rs112735431(A;A)
Make rs112735431(A;G)
Make rs112735431(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position80385145
GeneLOC100294362, RNF213
is asnp
is mentioned by
dbSNPrs112735431
dbSNP (old)rs112735431
ClinGenrs112735431
ebirs112735431
HLIrs112735431
Exacrs112735431
Varsomers112735431
Maprs112735431
PheGenIrs112735431
Biobankrs112735431
1000 genomesrs112735431
hgdprs112735431
ensemblrs112735431
gopubmedrs112735431
geneviewrs112735431
scholarrs112735431
googlers112735431
pharmgkbrs112735431
gwascentralrs112735431
openSNPrs112735431
23andMers112735431
23andMe allrs112735431
SNP Nexus

SNPshotrs112735431
SNPdbers112735431
MSV3drs112735431
GWAS Ctlgrs112735431
Max Magnitude

[PMID 26590131OA-icon.png] Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals

ClinVar
Risk rs112735431(A;A) rs112735431(C;C)
Alt rs112735431(A;A) rs112735431(C;C)
Reference rs112735431(G;G)
Significance Other
Disease Moyamoya disease 2
Variation info
Gene LOC100294362 RNF213
CLNDBN Moyamoya disease 2
Reversed 0
HGVS NC_000017.10:g.78358945G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032902.2,