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rs199469477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGCT;AGCT) 0 common in clinvar
Make rs199469477(-;-)
Make rs199469477(-;AGCT)
ReferenceGRCh38 38.1/141
Chromosome2
Position127423120
GeneMIR4783, PROC
is asnp
is mentioned by
dbSNPrs199469477
dbSNP (classic)rs199469477
ClinGenrs199469477
ebirs199469477
HLIrs199469477
Exacrs199469477
Gnomadrs199469477
Varsomers199469477
LitVarrs199469477
Maprs199469477
PheGenIrs199469477
Biobankrs199469477
1000 genomesrs199469477
hgdprs199469477
ensemblrs199469477
geneviewrs199469477
scholarrs199469477
googlers199469477
pharmgkbrs199469477
gwascentralrs199469477
openSNPrs199469477
23andMers199469477
SNPshotrs199469477
SNPdbers199469477
MSV3drs199469477
GWAS Ctlgrs199469477
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs199469477(AGCT;AGCT)
Significance Probable-Pathogenic
Disease Thrombophilia
Variation info
Gene PROC MIR4783
CLNDBN Thrombophilia, hereditary, due to protein c deficiency, autosomal dominant
Reversed 0
HGVS NC_000002.11:g.128180696_128180699delAGCT
CLNSRC
CLNACC