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rs7078160

From SNPedia

Orientationplus
Stabilizedplus
Make rs7078160(A;A)
Make rs7078160(A;G)
Make rs7078160(G;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position117068049
GeneKIAA1598
is asnp
is mentioned by
dbSNPrs7078160
ebirs7078160
HLIrs7078160
Exacrs7078160
Varsomers7078160
Maprs7078160
PheGenIrs7078160
hapmaprs7078160
1000 genomesrs7078160
hgdprs7078160
ensemblrs7078160
gopubmedrs7078160
geneviewrs7078160
scholarrs7078160
googlers7078160
pharmgkbrs7078160
gwascentralrs7078160
openSNPrs7078160
23andMers7078160
23andMe allrs7078160
SNP Nexus

SNPshotrs7078160
SNPdbers7078160
MSV3drs7078160
GWAS Ctlgrs7078160
GMAF0.2658
Max Magnitude
? (A;A) (A;G) (G;G) 28
GWAS snp
PMID [PMID 20023658]
Trait Nonsyndromic cleft lip with or without cleft palate
Title Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate
Risk Allele A
P-val 2E-8
Odds Ratio 1.36 [1.21-1.53]


[PMID 20860768] Replication of two novel susceptibility loci for non-syndromic orofacial clefts in a Chinese population


[PMID 22021054] Polymorphic variants at 10q25.3 and 17q22 loci and the risk of non-syndromic cleft lip and palate in the Polish population.


GET Evidence
rs7078160
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.265625
summary



GWAS snp
PMID [PMID 22863734OA-icon.png]
Trait Orofacial clefts
Title Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
Risk Allele A
P-val 6E-10
Odds Ratio NR NR


[PMID 23463464OA-icon.png] Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).


[PMID 26198054] Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry