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rs397515427

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515427(A;A)
Make rs397515427(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position42356848
GeneMEGF8
is asnp
is mentioned by
dbSNPrs397515427
ebirs397515427
HLIrs397515427
Exacrs397515427
Varsomers397515427
Maprs397515427
PheGenIrs397515427
hapmaprs397515427
1000 genomesrs397515427
hgdprs397515427
ensemblrs397515427
gopubmedrs397515427
geneviewrs397515427
scholarrs397515427
googlers397515427
pharmgkbrs397515427
gwascentralrs397515427
openSNPrs397515427
23andMers397515427
23andMe allrs397515427
SNP Nexus

SNPshotrs397515427
SNPdbers397515427
MSV3drs397515427
GWAS Ctlgrs397515427
Max Magnitude0
ClinVar
Risk rs397515427(A;A)
Alt rs397515427(A;A)
Reference rs397515427(G;G)
Significance Pathogenic
Disease Carpenter syndrome 2
Variation info
Gene MEGF8
CLNDBN Carpenter syndrome 2
Reversed 0
HGVS NC_000019.9:g.42861000G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033072.2,