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rs1057518951

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518951(C;T)
Make rs1057518951(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position156829296
GeneARID1B
is asnp
is mentioned by
dbSNPrs1057518951
dbSNP (old)rs1057518951
ClinGenrs1057518951
ebirs1057518951
HLIrs1057518951
Exacrs1057518951
Gnomadrs1057518951
Varsomers1057518951
Maprs1057518951
PheGenIrs1057518951
Biobankrs1057518951
1000 genomesrs1057518951
hgdprs1057518951
ensemblrs1057518951
gopubmedrs1057518951
geneviewrs1057518951
scholarrs1057518951
googlers1057518951
pharmgkbrs1057518951
gwascentralrs1057518951
openSNPrs1057518951
23andMers1057518951
23andMe allrs1057518951
SNPshotrs1057518951
SNPdbers1057518951
MSV3drs1057518951
GWAS Ctlgrs1057518951
Max Magnitude0
ClinVar
Risk rs1057518951(T;T)
Alt rs1057518951(T;T)
Reference Rs1057518951(C;C)
Significance Pathogenic
Disease Agenesis of corpus callosum Global developmental delay Hypertrichosis Nail dysplasia Neonatal hypotonia
Variation info
Gene ARID1B
CLNDBN Agenesis of corpus callosum Global developmental delay Hypertrichosis Nail dysplasia Neonatal hypotonia
Reversed 0
HGVS NC_000006.11:g.157150430C>T
CLNSRC
CLNACC RCV000414997.1,