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rs1670533

From SNPedia

Orientationminus
Stabilizedminus
Make rs1670533(C;C)
Make rs1670533(C;T)
Make rs1670533(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position1084399
GeneRNF212
is asnp
is mentioned by
dbSNPrs1670533
ebirs1670533
HLIrs1670533
Exacrs1670533
Varsomers1670533
Maprs1670533
PheGenIrs1670533
hapmaprs1670533
1000 genomesrs1670533
hgdprs1670533
ensemblrs1670533
gopubmedrs1670533
geneviewrs1670533
scholarrs1670533
googlers1670533
pharmgkbrs1670533
gwascentralrs1670533
openSNPrs1670533
23andMers1670533
23andMe allrs1670533
SNP Nexus

SNPshotrs1670533
SNPdbers1670533
MSV3drs1670533
GWAS Ctlgrs1670533
GMAF0.2332
Max Magnitude
? (C;C) (C;T) (T;T) 28
GWAS
SNP rs1670533
PubMedID [PMID 18239089]
Condition Recombination rate (females)
Gene RNF212,SPON2
Risk Allele C
pValue 2.00E-012
OR 88.2
95% CI 63.7-112.7) cM increas


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



OMIM612041
Desc
Variant0001
Relatedalso
OMIM612041
Desc
Variant0002
Relatedalso
[PMID 19002143OA-icon.png] Sex-specific genetic architecture of human disease.


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


GET Evidence
rs1670533
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.825397
summary



ClinVar
Risk rs1670533(T;T)
Alt rs1670533(T;T)
Reference rs1670533(C;C)
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.1078187G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000772.3,