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rs727504219

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727504219(A;A)
Make rs727504219(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome8
Position99819998
GeneVPS13B
is asnp
is mentioned by
dbSNPrs727504219
ebirs727504219
HLIrs727504219
Exacrs727504219
Varsomers727504219
Maprs727504219
PheGenIrs727504219
hapmaprs727504219
1000 genomesrs727504219
hgdprs727504219
ensemblrs727504219
gopubmedrs727504219
geneviewrs727504219
scholarrs727504219
googlers727504219
pharmgkbrs727504219
gwascentralrs727504219
openSNPrs727504219
23andMers727504219
23andMe allrs727504219
SNP Nexus

SNPshotrs727504219
SNPdbers727504219
MSV3drs727504219
GWAS Ctlgrs727504219
Max Magnitude0
ClinVar
Risk rs727504219(A;A)
Alt rs727504219(A;A)
Reference rs727504219(T;T)
Significance Pathogenic
Disease not provided Cohen syndrome
Variation info
Gene VPS13B
CLNDBN not provided Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100832226T>A
CLNSRC
CLNACC RCV000154129.2, RCV000178693.1,