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rs727502767

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727502767(A;G)
Make rs727502767(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position79599731
GeneLOC101928230, MAF
is asnp
is mentioned by
dbSNPrs727502767
ebirs727502767
HLIrs727502767
Exacrs727502767
Varsomers727502767
Maprs727502767
PheGenIrs727502767
hapmaprs727502767
1000 genomesrs727502767
hgdprs727502767
ensemblrs727502767
gopubmedrs727502767
geneviewrs727502767
scholarrs727502767
googlers727502767
pharmgkbrs727502767
gwascentralrs727502767
openSNPrs727502767
23andMers727502767
23andMe allrs727502767
SNP Nexus

SNPshotrs727502767
SNPdbers727502767
MSV3drs727502767
GWAS Ctlgrs727502767
Max Magnitude0
ClinVar
Risk rs727502767(G;G)
Alt rs727502767(G;G)
Reference rs727502767(A;A)
Significance Pathogenic
Disease Ayme-gripp syndrome
Variation info
Gene MAF LOC101928230
CLNDBN Ayme-gripp syndrome
Reversed 1
HGVS NC_000016.9:g.79633628T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000149903.3,