rs121908822

Orientation

minus

Stabilized

minus

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

Make rs121908822(-;-)

Make rs121908822(-;ACAG)

Reference

GRCh38 38.1/141

Chromosome

2

Position

96254974

Gene

TMEM127

is a	snp
is	mentioned by
dbSNP	rs121908822
dbSNP (classic)	rs121908822
ClinGen	rs121908822
ebi	rs121908822
HLI	rs121908822
Exac	rs121908822
Gnomad	rs121908822
Varsome	rs121908822
LitVar	rs121908822
Map	rs121908822
PheGenI	rs121908822
Biobank	rs121908822
1000 genomes	rs121908822
hgdp	rs121908822
ensembl	rs121908822
geneview	rs121908822
scholar	rs121908822
google	rs121908822
pharmgkb	rs121908822
gwascentral	rs121908822
openSNP	rs121908822
23andMe	rs121908822
SNPshot	rs121908822
SNPdbe	rs121908822
MSV3d	rs121908822
GWAS Ctlg	rs121908822

Max Magnitude

0

ClinVar
Risk	rs121908822(-;-)
Alt	rs121908822(-;-)
Reference	Rs121908822(ACAG;ACAG)
Significance	Probable-Pathogenic
Disease	Pheochromocytoma
Variation	info
Gene	TMEM127
CLNDBN	Pheochromocytoma
Reversed	1
HGVS	NC_000002.11:g.96920712_96920715delCTGT
CLNSRC	ClinVar
CLNACC	RCV000114825.1,

[PMID 20154675] Germline mutations in TMEM127 confer susceptibility to pheochromocytoma.

OMIM	171300
Desc
Variant
Related	also