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rs727502769

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727502769(C;T)
Make rs727502769(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position79599730
GeneLOC101928230, MAF
is asnp
is mentioned by
dbSNPrs727502769
ebirs727502769
HLIrs727502769
Exacrs727502769
Varsomers727502769
Maprs727502769
PheGenIrs727502769
hapmaprs727502769
1000 genomesrs727502769
hgdprs727502769
ensemblrs727502769
gopubmedrs727502769
geneviewrs727502769
scholarrs727502769
googlers727502769
pharmgkbrs727502769
gwascentralrs727502769
openSNPrs727502769
23andMers727502769
23andMe allrs727502769
SNP Nexus

SNPshotrs727502769
SNPdbers727502769
MSV3drs727502769
GWAS Ctlgrs727502769
Max Magnitude0
ClinVar
Risk rs727502769(T;T)
Alt rs727502769(T;T)
Reference rs727502769(C;C)
Significance Pathogenic
Disease Ayme-gripp syndrome
Variation info
Gene MAF LOC101928230
CLNDBN Ayme-gripp syndrome
Reversed 1
HGVS NC_000016.9:g.79633627G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149904.3,