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rs606231196

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231196(-;-)
Make rs606231196(-;G)
Make rs606231196(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position48902793
GenePQBP1, SLC35A2
is asnp
is mentioned by
dbSNPrs606231196
ebirs606231196
HLIrs606231196
Exacrs606231196
Varsomers606231196
Maprs606231196
PheGenIrs606231196
hapmaprs606231196
1000 genomesrs606231196
hgdprs606231196
ensemblrs606231196
gopubmedrs606231196
geneviewrs606231196
scholarrs606231196
googlers606231196
pharmgkbrs606231196
gwascentralrs606231196
openSNPrs606231196
23andMers606231196
23andMe allrs606231196
SNP Nexus

SNPshotrs606231196
SNPdbers606231196
MSV3drs606231196
GWAS Ctlgrs606231196
Max Magnitude0
ClinVar
Risk rs606231196(G;G)
Alt rs606231196(G;G)
Reference rs606231196(;)
Significance Pathogenic
Disease Renpenning syndrome 1
Variation info
Gene PQBP1 SLC35A2
CLNDBN Renpenning syndrome 1
Reversed 1
HGVS NC_000023.10:g.48760071dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000011729.9,