rs1057518907

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1057518907(C;T)

Make rs1057518907(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

58891811

Gene

GNAS

is a	snp
is	mentioned by
dbSNP	rs1057518907
dbSNP (classic)	rs1057518907
ClinGen	rs1057518907
ebi	rs1057518907
HLI	rs1057518907
Exac	rs1057518907
Gnomad	rs1057518907
Varsome	rs1057518907
LitVar	rs1057518907
Map	rs1057518907
PheGenI	rs1057518907
Biobank	rs1057518907
1000 genomes	rs1057518907
hgdp	rs1057518907
ensembl	rs1057518907
geneview	rs1057518907
scholar	rs1057518907
google	rs1057518907
pharmgkb	rs1057518907
gwascentral	rs1057518907
openSNP	rs1057518907
23andMe	rs1057518907
SNPshot	rs1057518907
SNPdbe	rs1057518907
MSV3d	rs1057518907
GWAS Ctlg	rs1057518907

Max Magnitude

0

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,