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rs1057518907

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518907(C;T)
Make rs1057518907(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome20
Position58891811
GeneGNAS
is asnp
is mentioned by
dbSNPrs1057518907
dbSNP (old)rs1057518907
ClinGenrs1057518907
ebirs1057518907
HLIrs1057518907
Exacrs1057518907
Gnomadrs1057518907
Varsomers1057518907
Maprs1057518907
PheGenIrs1057518907
Biobankrs1057518907
1000 genomesrs1057518907
hgdprs1057518907
ensemblrs1057518907
gopubmedrs1057518907
geneviewrs1057518907
scholarrs1057518907
googlers1057518907
pharmgkbrs1057518907
gwascentralrs1057518907
openSNPrs1057518907
23andMers1057518907
23andMe allrs1057518907
SNPshotrs1057518907
SNPdbers1057518907
MSV3drs1057518907
GWAS Ctlgrs1057518907
Max Magnitude0
ClinVar
Risk rs1057518907(T;T)
Alt rs1057518907(T;T)
Reference Rs1057518907(C;C)
Significance Pathogenic
Disease Brachydactyly syndrome Cognitive impairment Hypocalcemia Obesity Round face Short stature Subcutaneous nodule Tetany
Variation info
Gene GNAS
CLNDBN Brachydactyly syndrome Cognitive impairment Hypocalcemia Obesity Round face Short stature Subcutaneous nodule Tetany
Reversed 0
HGVS NC_000020.10:g.57466866C>T
CLNSRC
CLNACC RCV000414783.1,