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rs727502766

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727502766(C;T)
Make rs727502766(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position79599742
GeneLOC101928230, MAF
is asnp
is mentioned by
dbSNPrs727502766
ebirs727502766
HLIrs727502766
Exacrs727502766
Varsomers727502766
Maprs727502766
PheGenIrs727502766
hapmaprs727502766
1000 genomesrs727502766
hgdprs727502766
ensemblrs727502766
gopubmedrs727502766
geneviewrs727502766
scholarrs727502766
googlers727502766
pharmgkbrs727502766
gwascentralrs727502766
openSNPrs727502766
23andMers727502766
23andMe allrs727502766
SNP Nexus

SNPshotrs727502766
SNPdbers727502766
MSV3drs727502766
GWAS Ctlgrs727502766
Max Magnitude0
ClinVar
Risk rs727502766(T;T)
Alt rs727502766(T;T)
Reference rs727502766(C;C)
Significance Pathogenic
Disease Ayme-gripp syndrome
Variation info
Gene MAF LOC101928230
CLNDBN Ayme-gripp syndrome
Reversed 1
HGVS NC_000016.9:g.79633639G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149902.3,