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

rs1057516986

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TTTC;TTTC) 0 common in clinvar
Make rs1057516986(-;-)
Make rs1057516986(-;TTTC)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position46189941
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs1057516986
dbSNP (old)rs1057516986
ClinGenrs1057516986
ebirs1057516986
HLIrs1057516986
Exacrs1057516986
Gnomadrs1057516986
Varsomers1057516986
Maprs1057516986
PheGenIrs1057516986
Biobankrs1057516986
1000 genomesrs1057516986
hgdprs1057516986
ensemblrs1057516986
gopubmedrs1057516986
geneviewrs1057516986
scholarrs1057516986
googlers1057516986
pharmgkbrs1057516986
gwascentralrs1057516986
openSNPrs1057516986
23andMers1057516986
23andMe allrs1057516986
SNPshotrs1057516986
SNPdbers1057516986
MSV3drs1057516986
GWAS Ctlgrs1057516986
Max Magnitude0
ClinVar
Risk rs1057516986(-;-)
Alt rs1057516986(-;-)
Reference Rs1057516986(TTTC;TTTC)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46655613_46655616delGAAA
CLNSRC
CLNACC RCV000409168.1,