rs1057518872

Orientation

plus

Stabilized

plus

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

Make rs1057518872(C;C)

Make rs1057518872(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

121447287

Gene

GJA1

is a	snp
is	mentioned by
dbSNP	rs1057518872
dbSNP (classic)	rs1057518872
ClinGen	rs1057518872
ebi	rs1057518872
HLI	rs1057518872
Exac	rs1057518872
Gnomad	rs1057518872
Varsome	rs1057518872
LitVar	rs1057518872
Map	rs1057518872
PheGenI	rs1057518872
Biobank	rs1057518872
1000 genomes	rs1057518872
hgdp	rs1057518872
ensembl	rs1057518872
geneview	rs1057518872
scholar	rs1057518872
google	rs1057518872
pharmgkb	rs1057518872
gwascentral	rs1057518872
openSNP	rs1057518872
23andMe	rs1057518872
SNPshot	rs1057518872
SNPdbe	rs1057518872
MSV3d	rs1057518872
GWAS Ctlg	rs1057518872

Max Magnitude

0

ClinVar
Risk	rs1057518872(C;C)
Alt	rs1057518872(C;C)
Reference	Rs1057518872(T;T)
Significance	Pathogenic
Disease	Anteverted nares Bilateral microphthalmos Cutaneous finger syndactyly Intellectual disability
Variation	info
Gene	GJA1
CLNDBN	Anteverted nares Bilateral microphthalmos Cutaneous finger syndactyly Intellectual disability
Reversed	0
HGVS	NC_000006.11:g.121768433T>C
CLNSRC
CLNACC	RCV000414769.1,