rs74315317

Orientation

plus

Stabilized

plus

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

Make rs74315317(A;A)

Make rs74315317(A;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

34785018

Gene	GJB3, LOC105378642

is a	snp
is	mentioned by
dbSNP	rs74315317
dbSNP (classic)	rs74315317
ClinGen	rs74315317
ebi	rs74315317
HLI	rs74315317
Exac	rs74315317
Gnomad	rs74315317
Varsome	rs74315317
LitVar	rs74315317
Map	rs74315317
PheGenI	rs74315317
Biobank	rs74315317
1000 genomes	rs74315317
hgdp	rs74315317
ensembl	rs74315317
geneview	rs74315317
scholar	rs74315317
google	rs74315317
pharmgkb	rs74315317
gwascentral	rs74315317
openSNP	rs74315317
23andMe	rs74315317
SNPshot	rs74315317
SNPdbe	rs74315317
MSV3d	rs74315317
GWAS Ctlg	rs74315317

Max Magnitude

0

OMIM	603324
Desc
Variant	0003
Related	also

ClinVar
Risk	rs74315317(A;A) rs74315317(C;C)
Alt	rs74315317(A;A) rs74315317(C;C)
Reference	Rs74315317(T;T)
Significance	Pathogenic
Disease	Erythrokeratodermia variabilis
Variation	info
Gene	GJB3
CLNDBN	Erythrokeratodermia variabilis
Reversed	0
HGVS	NC_000001.10:g.35250619T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006857.3,