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rs869025181

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTCTCCCTAAGGG;GTCTCCCTAAGGG) 0 common in clinvar
(GTCTCCCTAAGGGC;GTCTCCCTAAGGGC) 0 common in clinvar
Make rs869025181(-;-)
Make rs869025181(-;GTCTCCCTAAGGG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position133953181
GeneGPC3
is asnp
is mentioned by
dbSNPrs869025181
dbSNP (old)rs869025181
ClinGenrs869025181
ebirs869025181
HLIrs869025181
Exacrs869025181
Gnomadrs869025181
Varsomers869025181
Maprs869025181
PheGenIrs869025181
Biobankrs869025181
1000 genomesrs869025181
hgdprs869025181
ensemblrs869025181
gopubmedrs869025181
geneviewrs869025181
scholarrs869025181
googlers869025181
pharmgkbrs869025181
gwascentralrs869025181
openSNPrs869025181
23andMers869025181
23andMe allrs869025181
SNP Nexus

SNPshotrs869025181
SNPdbers869025181
MSV3drs869025181
GWAS Ctlgrs869025181
Max Magnitude0
ClinVar
Risk rs869025181(-;-)
Alt rs869025181(-;-)
Reference Rs869025181(GTCTCCCTAAGGG;GTCTCCCTAAGGG)
Significance Pathogenic
Disease Simpson-Golabi-Behmel syndrome
Variation info
Gene GPC3
CLNDBN Simpson-Golabi-Behmel syndrome
Reversed 1
HGVS NC_000023.10:g.133087208_133087220delCCCTTAGGGAGAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012451.25,