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rs587777776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCGGG;CCGGG) 0 common in clinvar
Make rs587777776(AGACCT;AGACCT)
Make rs587777776(AGACCT;CCGGG)
ReferenceGRCh38 38.1/142
Chromosome9
Position78328996
GenePSAT1
is asnp
is mentioned by
dbSNPrs587777776
ebirs587777776
HLIrs587777776
Exacrs587777776
Varsomers587777776
Maprs587777776
PheGenIrs587777776
hapmaprs587777776
1000 genomesrs587777776
hgdprs587777776
ensemblrs587777776
gopubmedrs587777776
geneviewrs587777776
scholarrs587777776
googlers587777776
pharmgkbrs587777776
gwascentralrs587777776
openSNPrs587777776
23andMers587777776
23andMe allrs587777776
SNP Nexus

SNPshotrs587777776
SNPdbers587777776
MSV3drs587777776
GWAS Ctlgrs587777776
Max Magnitude0
ClinVar
Risk rs587777776(AGACCT;AGACCT)
Alt rs587777776(AGACCT;AGACCT)
Reference rs587777776(CCGGG;CCGGG)
Significance Pathogenic
Disease Neu-laxova syndrome 2
Variation info
Gene PSAT1
CLNDBN Neu-laxova syndrome 2
Reversed 0
HGVS NC_000009.11:g.80943912_80943916delCCGGGinsAGACCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000144446.3,