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Rs1057744

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Orientationminus
is asnp
is mentioned by
dbSNPrs1057744
PheGenIrs1057744
nextbiors1057744
hapmaprs1057744
1000 genomesrs1057744
hgdprs1057744
ensemblrs1057744
gopubmedrs1057744
geneviewrs1057744
scholarrs1057744
googlers1057744
pharmgkbrs1057744
gwascentralrs1057744
openSNPrs1057744
23andMers1057744
23andMe allrs1057744
SNP Nexus

SNPshotrs1057744
SNPdbers1057744
MSV3drs1057744
GeneJAG2, MIR6765
Chromosome14
Orientationminus
GMAF0.4601
Position105150705
ReferenceGRCh38 38.1/141
Max Magnitude
Make rs1057744(A;A)
Make rs1057744(A;G)
Make rs1057744(G;G)
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene JAG2
allele T
frequency 0.5
sift TOLERATED
HuRef 1103649153753
Disease Association May be associated with Usher syndrome type IA (USHA1A) which describes a congenital sensory deafness associated with retinitis pigmentosa and feeble-mindedness.



GET Evidence
JAG2-E463K
aa_change Glu463Lys
aa_change_short E463K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.614724
summary



[PMID 23524414OA-icon.png] Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population.