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rs727503778

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503778(C;T)
Make rs727503778(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position100114074
GeneTAF6
is asnp
is mentioned by
dbSNPrs727503778
ebirs727503778
HLIrs727503778
Exacrs727503778
Varsomers727503778
Maprs727503778
PheGenIrs727503778
hapmaprs727503778
1000 genomesrs727503778
hgdprs727503778
ensemblrs727503778
gopubmedrs727503778
geneviewrs727503778
scholarrs727503778
googlers727503778
pharmgkbrs727503778
gwascentralrs727503778
openSNPrs727503778
23andMers727503778
23andMe allrs727503778
SNP Nexus

SNPshotrs727503778
SNPdbers727503778
MSV3drs727503778
GWAS Ctlgrs727503778
Max Magnitude0
ClinVar
Risk rs727503778(T;T)
Alt rs727503778(T;T)
Reference rs727503778(C;C)
Significance Pathogenic
Disease Cornelia de Lange syndrome 1
Variation info
Gene TAF6
CLNDBN Cornelia de Lange syndrome 1
Reversed 1
HGVS NC_000007.13:g.99711697G>A
CLNSRC
CLNACC RCV000157054.1,