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rs74435397

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74435397(A;G)
Make rs74435397(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position6974427
GeneEMG1
is asnp
is mentioned by
dbSNPrs74435397
ebirs74435397
HLIrs74435397
Exacrs74435397
Varsomers74435397
Maprs74435397
PheGenIrs74435397
hapmaprs74435397
1000 genomesrs74435397
hgdprs74435397
ensemblrs74435397
gopubmedrs74435397
geneviewrs74435397
scholarrs74435397
googlers74435397
pharmgkbrs74435397
gwascentralrs74435397
openSNPrs74435397
23andMers74435397
23andMe allrs74435397
SNP Nexus

SNPshotrs74435397
SNPdbers74435397
MSV3drs74435397
GWAS Ctlgrs74435397
Max Magnitude0
OMIM611531
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74435397(G;G)
Alt rs74435397(G;G)
Reference rs74435397(A;A)
Significance Pathogenic
Disease Bowen-Conradi syndrome
Variation info
Gene EMG1
CLNDBN Bowen-Conradi syndrome
Reversed 0
HGVS NC_000012.11:g.7083589A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000938.2,