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rs727502768

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727502768(C;G)
Make rs727502768(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position79599697
GeneLOC101928230, MAF
is asnp
is mentioned by
dbSNPrs727502768
ebirs727502768
HLIrs727502768
Exacrs727502768
Varsomers727502768
Maprs727502768
PheGenIrs727502768
hapmaprs727502768
1000 genomesrs727502768
hgdprs727502768
ensemblrs727502768
gopubmedrs727502768
geneviewrs727502768
scholarrs727502768
googlers727502768
pharmgkbrs727502768
gwascentralrs727502768
openSNPrs727502768
23andMers727502768
23andMe allrs727502768
SNP Nexus

SNPshotrs727502768
SNPdbers727502768
MSV3drs727502768
GWAS Ctlgrs727502768
Max Magnitude0
ClinVar
Risk rs727502768(G;G)
Alt rs727502768(G;G)
Reference rs727502768(C;C)
Significance Pathogenic
Disease Ayme-gripp syndrome
Variation info
Gene MAF LOC101928230
CLNDBN Ayme-gripp syndrome
Reversed 1
HGVS NC_000016.9:g.79633594G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000149908.3,