rs875989815

Orientation

plus

Stabilized

plus

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

Make rs875989815(A;T)

Make rs875989815(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

121447528

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs875989815
dbSNP (classic)	rs875989815
ClinGen	rs875989815
ebi	rs875989815
HLI	rs875989815
Exac	rs875989815
Gnomad	rs875989815
Varsome	rs875989815
LitVar	rs875989815
Map	rs875989815
PheGenI	rs875989815
Biobank	rs875989815
1000 genomes	rs875989815
hgdp	rs875989815
ensembl	rs875989815
geneview	rs875989815
scholar	rs875989815
google	rs875989815
pharmgkb	rs875989815
gwascentral	rs875989815
openSNP	rs875989815
23andMe	rs875989815
SNPshot	rs875989815
SNPdbe	rs875989815
MSV3d	rs875989815
GWAS Ctlg	rs875989815

Max Magnitude

0

ClinVar
Risk	rs875989815(T;T)
Alt	rs875989815(T;T)
Reference	Rs875989815(A;A)
Significance	Pathogenic
Disease	Erythrokeratodermia variabilis et progressiva 3
Variation	info
Gene	GJA1
CLNDBN	Erythrokeratodermia variabilis et progressiva 3
Reversed	0
HGVS	NC_000006.11:g.121768674A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000185624.3,