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rs34231037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
Make rs34231037(A;G)
Make rs34231037(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position55106779
GeneKDR
is asnp
is mentioned by
dbSNPrs34231037
ebirs34231037
HLIrs34231037
Exacrs34231037
Varsomers34231037
Maprs34231037
PheGenIrs34231037
hapmaprs34231037
1000 genomesrs34231037
hgdprs34231037
ensemblrs34231037
gopubmedrs34231037
geneviewrs34231037
scholarrs34231037
googlers34231037
pharmgkbrs34231037
gwascentralrs34231037
openSNPrs34231037
23andMers34231037
23andMe allrs34231037
SNP Nexus

SNPshotrs34231037
SNPdbers34231037
MSV3drs34231037
GWAS Ctlgrs34231037
GMAF0.01377
Max Magnitude0
OMIM191306
Desc
Variant0002
Relatedalso


ClinVar
Risk rs34231037(G;G)
Alt rs34231037(G;G)
Reference rs34231037(A;A)
Significance Other
Disease Hemangioma not specified
Variation info
Gene KDR
CLNDBN Hemangioma, capillary infantile, susceptibility to not specified
Reversed 0
HGVS NC_000004.11:g.55972946A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013111.2, RCV000121295.1,



GET Evidence
KDR-C482R
aa_change Cys482Arg
aa_change_short C482R
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.0209147
summary Hypothesized to cause a higher risk of benign neonatal hemangiomas (which are seen in 10% of children). However, observations lacked statistical significance.