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rs3796619

From SNPedia

Orientationminus
Stabilizedminus
Make rs3796619(C;C)
Make rs3796619(C;T)
Make rs3796619(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1101493
GeneRNF212
is asnp
is mentioned by
dbSNPrs3796619
ebirs3796619
HLIrs3796619
Exacrs3796619
Varsomers3796619
Maprs3796619
PheGenIrs3796619
hapmaprs3796619
1000 genomesrs3796619
hgdprs3796619
ensemblrs3796619
gopubmedrs3796619
geneviewrs3796619
scholarrs3796619
googlers3796619
pharmgkbrs3796619
gwascentralrs3796619
openSNPrs3796619
23andMers3796619
23andMe allrs3796619
SNP Nexus

SNPshotrs3796619
SNPdbers3796619
MSV3drs3796619
GWAS Ctlgrs3796619
GMAF0.4568
Max Magnitude
? (C;C) (C;T) (T;T) 28
GWAS
SNP rs3796619
PubMedID [PMID 18239089]
Condition Recombination rate (males)
Gene RNF212,SPON2
Risk Allele T
pValue 3.00E-024
OR 70.7
95% CI 84.3-57.1) cM decreas


OMIM612042
DescRECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1; RRQTL1
Variant
Relatedalso
OMIM612041
DescRING FINGER PROTEIN 212; RNF212
Variant
Relatedalso



OMIM612041
Desc
Variant0001
Relatedalso
[PMID 19002143OA-icon.png] Sex-specific genetic architecture of human disease.


[PMID 19763160OA-icon.png] Genetic analysis of variation in human meiotic recombination.


[PMID 20369022OA-icon.png] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.


GET Evidence
rs3796619
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.539062
summary



ClinVar
Risk rs3796619(C;C)
Alt rs3796619(C;C)
Reference rs3796619(T;T)
Significance Other
Disease Recombination rate quantitative trait locus 1
Variation info
Gene RNF212
CLNDBN Recombination rate quantitative trait locus 1
Reversed 1
HGVS NC_000004.11:g.1095281A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000771.3,