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rs374993554

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs374993554(A;G)
Make rs374993554(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position100113899
GeneTAF6
is asnp
is mentioned by
dbSNPrs374993554
ebirs374993554
HLIrs374993554
Exacrs374993554
Varsomers374993554
Maprs374993554
PheGenIrs374993554
hapmaprs374993554
1000 genomesrs374993554
hgdprs374993554
ensemblrs374993554
gopubmedrs374993554
geneviewrs374993554
scholarrs374993554
googlers374993554
pharmgkbrs374993554
gwascentralrs374993554
openSNPrs374993554
23andMers374993554
23andMe allrs374993554
SNP Nexus

SNPshotrs374993554
SNPdbers374993554
MSV3drs374993554
GWAS Ctlgrs374993554
Max Magnitude0
ClinVar
Risk rs374993554(G,T;G,T)
Alt rs374993554(G,T;G,T)
Reference rs374993554(A;A)
Significance Pathogenic
Disease Syndromic intellectual disability Abnormal facial shape Global developmental delay
Variation info
Gene TAF6
CLNDBN Syndromic intellectual disability Abnormal facial shape Global developmental delay
Reversed 0
HGVS NC_000007.13:g.99711522A>G
CLNSRC
CLNACC RCV000157055.1, RCV000162155.1,