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rs796065038

From SNPedia

Orientationminus
Geno Mag Summary
(CCT;CCT) 0 common in clinvar
Make rs796065038(-;-)
Make rs796065038(-;CCT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position15536460
GeneNBAS
is asnp
is mentioned by
dbSNPrs796065038
ebirs796065038
HLIrs796065038
Exacrs796065038
Varsomers796065038
Maprs796065038
PheGenIrs796065038
hapmaprs796065038
1000 genomesrs796065038
hgdprs796065038
ensemblrs796065038
gopubmedrs796065038
geneviewrs796065038
scholarrs796065038
googlers796065038
pharmgkbrs796065038
gwascentralrs796065038
openSNPrs796065038
23andMers796065038
23andMe allrs796065038
SNP Nexus

SNPshotrs796065038
SNPdbers796065038
MSV3drs796065038
GWAS Ctlgrs796065038
Max Magnitude0
ClinVar
Risk rs796065038(;)
Alt rs796065038(;)
Reference rs796065038(CCT;CCT)
Significance Pathogenic
Disease Infantile liver failure syndrome 2
Variation info
Gene NBAS
CLNDBN Infantile liver failure syndrome 2
Reversed 1
HGVS NC_000002.11:g.15676584_15676586delAGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000186580.2,