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rs727502801

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs727502801(-;-)
Make rs727502801(-;T)
Make rs727502801(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position127932981
GeneLOC101927163, MFSD8
is asnp
is mentioned by
dbSNPrs727502801
ebirs727502801
HLIrs727502801
Exacrs727502801
Varsomers727502801
Maprs727502801
PheGenIrs727502801
hapmaprs727502801
1000 genomesrs727502801
hgdprs727502801
ensemblrs727502801
gopubmedrs727502801
geneviewrs727502801
scholarrs727502801
googlers727502801
pharmgkbrs727502801
gwascentralrs727502801
openSNPrs727502801
23andMers727502801
23andMe allrs727502801
SNP Nexus

SNPshotrs727502801
SNPdbers727502801
MSV3drs727502801
GWAS Ctlgrs727502801
Max Magnitude0
ClinVar
Risk rs727502801(T;T)
Alt rs727502801(T;T)
Reference rs727502801(;)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 7
Variation info
Gene LOC101927163 MFSD8
CLNDBN Ceroid lipofuscinosis neuronal 7
Reversed 1
HGVS NC_000004.11:g.128854136_128854137insA
CLNSRC OMIM Allelic Variant
CLNACC RCV000149776.3,