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rs727502770

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727502770(A;A)
Make rs727502770(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position79599727
GeneLOC101928230, MAF
is asnp
is mentioned by
dbSNPrs727502770
ebirs727502770
HLIrs727502770
Exacrs727502770
Varsomers727502770
Maprs727502770
PheGenIrs727502770
hapmaprs727502770
1000 genomesrs727502770
hgdprs727502770
ensemblrs727502770
gopubmedrs727502770
geneviewrs727502770
scholarrs727502770
googlers727502770
pharmgkbrs727502770
gwascentralrs727502770
openSNPrs727502770
23andMers727502770
23andMe allrs727502770
SNP Nexus

SNPshotrs727502770
SNPdbers727502770
MSV3drs727502770
GWAS Ctlgrs727502770
Max Magnitude0
ClinVar
Risk rs727502770(A,T;A,T)
Alt rs727502770(A,T;A,T)
Reference rs727502770(C;C)
Significance Pathogenic
Disease Ayme-gripp syndrome
Variation info
Gene MAF LOC101928230
CLNDBN Ayme-gripp syndrome
Reversed 1
HGVS NC_000016.9:g.79633624G>A; NC_000016.9:g.79633624G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000149906.4, RCV000149905.4,