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rs2235377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs2235377(C;C)
Make rs2235377(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position209802047
GeneIRF6
is asnp
is mentioned by
dbSNPrs2235377
dbSNP (old)rs2235377
ClinGenrs2235377
ebirs2235377
HLIrs2235377
Exacrs2235377
Gnomadrs2235377
Varsomers2235377
Maprs2235377
PheGenIrs2235377
Biobankrs2235377
1000 genomesrs2235377
hgdprs2235377
ensemblrs2235377
gopubmedrs2235377
geneviewrs2235377
scholarrs2235377
googlers2235377
pharmgkbrs2235377
gwascentralrs2235377
openSNPrs2235377
23andMers2235377
23andMe allrs2235377
SNP Nexus

SNPshotrs2235377
SNPdbers2235377
MSV3drs2235377
GWAS Ctlgrs2235377
GMAF0.1377
Max Magnitude0
? (C;C) (C;T) (T;T) 28
[PMID 19536891] The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population


ClinVar
Risk rs2235377(C;C)
Alt rs2235377(C;C)
Reference Rs2235377(T;T)
Significance Non-pathogenic
Disease Cleft Lip +/- Cleft Palate Popliteal pterygium syndrome Van der Woude syndrome not specified
Variation info
Gene IRF6
CLNDBN Cleft Lip +/- Cleft Palate, Autosomal Dominant Popliteal pterygium syndrome Van der Woude syndrome not specified
Reversed 0
HGVS NC_000001.10:g.209975392T>C
CLNSRC
CLNACC RCV000293777.1, RCV000337309.1, RCV000385665.1, RCV000439489.1,