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rs137854539

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854539(C;T)
Make rs137854539(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position58903703
GeneGNAS
is asnp
is mentioned by
dbSNPrs137854539
ebirs137854539
HLIrs137854539
Exacrs137854539
Varsomers137854539
Maprs137854539
PheGenIrs137854539
hapmaprs137854539
1000 genomesrs137854539
hgdprs137854539
ensemblrs137854539
gopubmedrs137854539
geneviewrs137854539
scholarrs137854539
googlers137854539
pharmgkbrs137854539
gwascentralrs137854539
openSNPrs137854539
23andMers137854539
23andMe allrs137854539
SNP Nexus

SNPshotrs137854539
SNPdbers137854539
MSV3drs137854539
GWAS Ctlgrs137854539
Max Magnitude0
OMIM139320
Desc
Variant0029
Relatedalso
ClinVar
Risk rs137854539(T;T)
Alt rs137854539(T;T)
Reference rs137854539(C;C)
Significance Pathogenic
Disease Pseudopseudohypoparathyroidism Pseudohypoparathyroidism type 1A
Variation info
Gene GNAS
CLNDBN Pseudopseudohypoparathyroidism Pseudohypoparathyroidism type 1A
Reversed 0
HGVS NC_000020.10:g.57478758C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017322.28, RCV000017323.24,