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rs587779412

From SNPedia

Orientationminus
Geno Mag Summary
(AGAA;AGAA) 0 common in clinvar
Make rs587779412(-;-)
Make rs587779412(-;AAAG)
Make rs587779412(AAAG;AAAG)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position101747193
GeneGNPTAB, LOC101929005
is asnp
is mentioned by
dbSNPrs587779412
ebirs587779412
HLIrs587779412
Exacrs587779412
Varsomers587779412
Maprs587779412
PheGenIrs587779412
hapmaprs587779412
1000 genomesrs587779412
hgdprs587779412
ensemblrs587779412
gopubmedrs587779412
geneviewrs587779412
scholarrs587779412
googlers587779412
pharmgkbrs587779412
gwascentralrs587779412
openSNPrs587779412
23andMers587779412
23andMe allrs587779412
SNP Nexus

SNPshotrs587779412
SNPdbers587779412
MSV3drs587779412
GWAS Ctlgrs587779412
Max Magnitude0
ClinVar
Risk rs587779412(;)
Alt rs587779412(;)
Reference rs587779412(AGAA;AGAA)
Significance Pathogenic
Disease I cell disease Pseudo-Hurler polydystrophy
Variation info
Gene GNPTAB LOC101929005
CLNDBN I cell disease Pseudo-Hurler polydystrophy
Reversed 1
HGVS NC_000012.11:g.102140969_102140972delTTCT
CLNSRC
CLNACC RCV000032345.1, RCV000087105.1,