Rs118204000

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Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs118204000(C;C)
Make rs118204000(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position39067256
GeneSEC23A
is asnp
is mentioned by
dbSNPrs118204000
Exacrs118204000
PheGenIrs118204000
nextbiors118204000
hapmaprs118204000
1000 genomesrs118204000
hgdprs118204000
ensemblrs118204000
gopubmedrs118204000
geneviewrs118204000
scholarrs118204000
googlers118204000
pharmgkbrs118204000
gwascentralrs118204000
openSNPrs118204000
23andMers118204000
23andMe allrs118204000
SNP Nexus

SNPshotrs118204000
SNPdbers118204000
MSV3drs118204000
Max Magnitude0
OMIM610511
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118204000(C;C)
Alt rs118204000(C;C)
Reference rs118204000(T;T)
Significance Pathogenic
Disease Craniolenticulosutural dysplasia
Variation info
Gene SEC23A
CLNDBN Craniolenticulosutural dysplasia
Reversed 1
HGVS NC_000014.8:g.39536460A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001287.1,