rs137852591

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	2	Height-related; carriers reported to be 2cm shorter than non-carriers
(G;G)	6	Androgen insensitivity (possibly partial)

Reference

GRCh38 38.1/141

Chromosome

X

Position

67721909

Gene

AR

is a	snp
is	mentioned by
dbSNP	rs137852591
dbSNP (classic)	rs137852591
ClinGen	rs137852591
ebi	rs137852591
HLI	rs137852591
Exac	rs137852591
Gnomad	rs137852591
Varsome	rs137852591
LitVar	rs137852591
Map	rs137852591
PheGenI	rs137852591
Biobank	rs137852591
1000 genomes	rs137852591
hgdp	rs137852591
ensembl	rs137852591
geneview	rs137852591
scholar	rs137852591
google	rs137852591
pharmgkb	rs137852591
gwascentral	rs137852591
openSNP	rs137852591
23andMe	rs137852591
SNPshot	rs137852591
SNPdbe	rs137852591
MSV3d	rs137852591
GWAS Ctlg	rs137852591

Max Magnitude

6

[PMID 28146470] Rare and low-frequency coding variants alter human adult height.

- Height related SNP; carriers of the (rare) minor allele for this SNP are approximately 2 cm shorter than non-carriers.

OMIM	313700
Desc
Variant	0043
Related	also

ClinVar
Risk	Rs137852591(G;G)
Alt	Rs137852591(G;G)
Reference	Rs137852591(C;C)
Significance	Pathogenic
Disease	Reifenstein syndrome not provided
Variation	info
Gene	AR
CLNDBN	Reifenstein syndrome not provided
Reversed	0
HGVS	NC_000023.10:g.66941751C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010520.3, RCV000224621.1,