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rs1057518891

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518891(C;T)
Make rs1057518891(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position60854479
GeneCHD7
is asnp
is mentioned by
dbSNPrs1057518891
dbSNP (old)rs1057518891
ClinGenrs1057518891
ebirs1057518891
HLIrs1057518891
Exacrs1057518891
Varsomers1057518891
Maprs1057518891
PheGenIrs1057518891
Biobankrs1057518891
1000 genomesrs1057518891
hgdprs1057518891
ensemblrs1057518891
gopubmedrs1057518891
geneviewrs1057518891
scholarrs1057518891
googlers1057518891
pharmgkbrs1057518891
gwascentralrs1057518891
openSNPrs1057518891
23andMers1057518891
23andMe allrs1057518891
SNP Nexus

SNPshotrs1057518891
SNPdbers1057518891
MSV3drs1057518891
GWAS Ctlgrs1057518891
Max Magnitude0
ClinVar
Risk rs1057518891(T;T)
Alt rs1057518891(T;T)
Reference Rs1057518891(C;C)
Significance Pathogenic
Disease Dolichocephaly Hypothyroidism Myopia Poor coordination Progressive hearing impairment Scoliosis
Variation info
Gene CHD7
CLNDBN Dolichocephaly Hypothyroidism Myopia Poor coordination Progressive hearing impairment Scoliosis
Reversed 0
HGVS NC_000008.10:g.61767038C>T
CLNSRC
CLNACC RCV000415206.1,