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rs724159971

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724159971(C;T)
Make rs724159971(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position127920743
GeneMFSD8
is asnp
is mentioned by
dbSNPrs724159971
ClinGenrs724159971
ebirs724159971
HLIrs724159971
Exacrs724159971
Varsomers724159971
Maprs724159971
PheGenIrs724159971
hapmaprs724159971
1000 genomesrs724159971
hgdprs724159971
ensemblrs724159971
gopubmedrs724159971
geneviewrs724159971
scholarrs724159971
googlers724159971
pharmgkbrs724159971
gwascentralrs724159971
openSNPrs724159971
23andMers724159971
23andMe allrs724159971
SNP Nexus

SNPshotrs724159971
SNPdbers724159971
MSV3drs724159971
GWAS Ctlgrs724159971
Max Magnitude0
ClinVar
Risk rs724159971(T;T)
Alt rs724159971(T;T)
Reference Rs724159971(C;C)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 7 not provided
Variation info
Gene MFSD8
CLNDBN Ceroid lipofuscinosis neuronal 7 not provided
Reversed 1
HGVS NC_000004.11:g.128841898G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000149777.4, RCV000256110.1,