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rs387906271

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906271(C;C)
Make rs387906271(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position60801598
GeneCHD7
is asnp
is mentioned by
dbSNPrs387906271
ebirs387906271
HLIrs387906271
Exacrs387906271
Varsomers387906271
Maprs387906271
PheGenIrs387906271
hapmaprs387906271
1000 genomesrs387906271
hgdprs387906271
ensemblrs387906271
gopubmedrs387906271
geneviewrs387906271
scholarrs387906271
googlers387906271
pharmgkbrs387906271
gwascentralrs387906271
openSNPrs387906271
23andMers387906271
23andMe allrs387906271
SNP Nexus

SNPshotrs387906271
SNPdbers387906271
MSV3drs387906271
GWAS Ctlgrs387906271
Max Magnitude0
ClinVar
Risk rs387906271(C;C)
Alt rs387906271(C;C)
Reference rs387906271(G;G)
Significance Pathogenic
Disease CHARGE association Kallmann syndrome 5
Variation info
Gene CHD7
CLNDBN CHARGE association Kallmann syndrome 5
Reversed 0
HGVS NC_000008.10:g.61714157G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002113.2, RCV000002114.2,