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rs727502771

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727502771(C;G)
Make rs727502771(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position79599718
GeneLOC101928230, MAF
is asnp
is mentioned by
dbSNPrs727502771
ebirs727502771
HLIrs727502771
Exacrs727502771
Varsomers727502771
Maprs727502771
PheGenIrs727502771
hapmaprs727502771
1000 genomesrs727502771
hgdprs727502771
ensemblrs727502771
gopubmedrs727502771
geneviewrs727502771
scholarrs727502771
googlers727502771
pharmgkbrs727502771
gwascentralrs727502771
openSNPrs727502771
23andMers727502771
23andMe allrs727502771
SNP Nexus

SNPshotrs727502771
SNPdbers727502771
MSV3drs727502771
GWAS Ctlgrs727502771
Max Magnitude0
ClinVar
Risk rs727502771(G;G)
Alt rs727502771(G;G)
Reference rs727502771(C;C)
Significance Pathogenic
Disease Ayme-gripp syndrome
Variation info
Gene MAF LOC101928230
CLNDBN Ayme-gripp syndrome
Reversed 1
HGVS NC_000016.9:g.79633615G>C
CLNSRC
CLNACC RCV000149907.1,