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rs750935331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs750935331(C;T)
Make rs750935331(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position77000850
GeneCLN5, FBXL3
is asnp
is mentioned by
dbSNPrs750935331
dbSNP (classic)rs750935331
ClinGenrs750935331
ebirs750935331
HLIrs750935331
Exacrs750935331
Gnomadrs750935331
Varsomers750935331
LitVarrs750935331
Maprs750935331
PheGenIrs750935331
Biobankrs750935331
1000 genomesrs750935331
hgdprs750935331
ensemblrs750935331
geneviewrs750935331
scholarrs750935331
googlers750935331
pharmgkbrs750935331
gwascentralrs750935331
openSNPrs750935331
23andMers750935331
SNPshotrs750935331
SNPdbers750935331
MSV3drs750935331
GWAS Ctlgrs750935331
Max Magnitude0
ClinVar
Risk rs750935331(G;G) rs750935331(T;T)
Alt rs750935331(G;G) rs750935331(T;T)
Reference Rs750935331(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77574985C>T
CLNSRC
CLNACC RCV000411598.1,