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rs267607235

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607235(C;T)
Make rs267607235(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position127921639
GeneMFSD8
is asnp
is mentioned by
dbSNPrs267607235
ebirs267607235
HLIrs267607235
Exacrs267607235
Varsomers267607235
Maprs267607235
PheGenIrs267607235
hapmaprs267607235
1000 genomesrs267607235
hgdprs267607235
ensemblrs267607235
gopubmedrs267607235
geneviewrs267607235
scholarrs267607235
googlers267607235
pharmgkbrs267607235
gwascentralrs267607235
openSNPrs267607235
23andMers267607235
23andMe allrs267607235
SNP Nexus

SNPshotrs267607235
SNPdbers267607235
MSV3drs267607235
GWAS Ctlgrs267607235
Max Magnitude0
ClinVar
Risk rs267607235(T;T)
Alt rs267607235(T;T)
Reference rs267607235(C;C)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 7
Variation info
Gene MFSD8
CLNDBN Ceroid lipofuscinosis neuronal 7
Reversed 1
HGVS NC_000004.11:g.128842794G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001060.3,