rs267606847

Orientation

plus

Stabilized

plus

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

Make rs267606847(C;T)

Make rs267606847(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

228157901

Gene

GJC2

is a	snp
is	mentioned by
dbSNP	rs267606847
dbSNP (classic)	rs267606847
ClinGen	rs267606847
ebi	rs267606847
HLI	rs267606847
Exac	rs267606847
Gnomad	rs267606847
Varsome	rs267606847
LitVar	rs267606847
Map	rs267606847
PheGenI	rs267606847
Biobank	rs267606847
1000 genomes	rs267606847
hgdp	rs267606847
ensembl	rs267606847
geneview	rs267606847
scholar	rs267606847
google	rs267606847
pharmgkb	rs267606847
gwascentral	rs267606847
openSNP	rs267606847
23andMe	rs267606847
SNPshot	rs267606847
SNPdbe	rs267606847
MSV3d	rs267606847
GWAS Ctlg	rs267606847

Max Magnitude

0

ClinVar
Risk	rs267606847(T;T)
Alt	rs267606847(T;T)
Reference	Rs267606847(C;C)
Significance	Pathogenic
Disease	Lymphedema
Variation	info
Gene	GJC2
CLNDBN	Lymphedema, hereditary, IC
Reversed	0
HGVS	NC_000001.10:g.228345602C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002160.4,