Have questions? Visit https://www.reddit.com/r/SNPedia

rs794727302

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTTG;TTTG) 0 common in clinvar
Make rs794727302(-;-)
Make rs794727302(-;TTTG)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position101796720
GeneGNPTAB
is asnp
is mentioned by
dbSNPrs794727302
dbSNP (classic)rs794727302
ClinGenrs794727302
ebirs794727302
HLIrs794727302
Exacrs794727302
Gnomadrs794727302
Varsomers794727302
LitVarrs794727302
Maprs794727302
PheGenIrs794727302
Biobankrs794727302
1000 genomesrs794727302
hgdprs794727302
ensemblrs794727302
geneviewrs794727302
scholarrs794727302
googlers794727302
pharmgkbrs794727302
gwascentralrs794727302
openSNPrs794727302
23andMers794727302
SNPshotrs794727302
SNPdbers794727302
MSV3drs794727302
GWAS Ctlgrs794727302
Max Magnitude0
ClinVar
Risk rs794727302(-;-)
Alt rs794727302(-;-)
Reference Rs794727302(TTTG;TTTG)
Significance Pathogenic
Disease I cell disease
Variation info
Gene GNPTAB
CLNDBN I cell disease
Reversed 1
HGVS NC_000012.11:g.102190498_102190501delCAAA
CLNSRC
CLNACC RCV000175943.1,