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

rs1057518918

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518918(-;-)
Make rs1057518918(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position157184329
GeneARID1B
is asnp
is mentioned by
dbSNPrs1057518918
dbSNP (classic)rs1057518918
ClinGenrs1057518918
ebirs1057518918
HLIrs1057518918
Exacrs1057518918
Gnomadrs1057518918
Varsomers1057518918
LitVarrs1057518918
Maprs1057518918
PheGenIrs1057518918
Biobankrs1057518918
1000 genomesrs1057518918
hgdprs1057518918
ensemblrs1057518918
geneviewrs1057518918
scholarrs1057518918
googlers1057518918
pharmgkbrs1057518918
gwascentralrs1057518918
openSNPrs1057518918
23andMers1057518918
23andMe allrs1057518918
SNPshotrs1057518918
SNPdbers1057518918
MSV3drs1057518918
GWAS Ctlgrs1057518918
Max Magnitude0
ClinVar
Risk rs1057518918(-;-)
Alt rs1057518918(-;-)
Reference Rs1057518918(C;C)
Significance Probable-Pathogenic
Disease Bilateral cryptorchidism Delayed speech and language development Global developmental delay Hypertrichosis Intellectual disability Neurological speech impairment
Variation info
Gene ARID1B
CLNDBN Bilateral cryptorchidism Delayed speech and language development Global developmental delay Hypertrichosis Intellectual disability Neurological speech impairment
Reversed 0
HGVS NC_000006.11:g.157505463delC
CLNSRC
CLNACC RCV000415239.1,