rs1057518441

Orientation

minus

Stabilized

minus

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

Make rs1057518441(A;A)

Make rs1057518441(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

44333224

Gene

C21orf2

is a	snp
is	mentioned by
dbSNP	rs1057518441
dbSNP (classic)	rs1057518441
ClinGen	rs1057518441
ebi	rs1057518441
HLI	rs1057518441
Exac	rs1057518441
Gnomad	rs1057518441
Varsome	rs1057518441
LitVar	rs1057518441
Map	rs1057518441
PheGenI	rs1057518441
Biobank	rs1057518441
1000 genomes	rs1057518441
hgdp	rs1057518441
ensembl	rs1057518441
geneview	rs1057518441
scholar	rs1057518441
google	rs1057518441
pharmgkb	rs1057518441
gwascentral	rs1057518441
openSNP	rs1057518441
23andMe	rs1057518441
SNPshot	rs1057518441
SNPdbe	rs1057518441
MSV3d	rs1057518441
GWAS Ctlg	rs1057518441

Max Magnitude

0

ClinVar
Risk	rs1057518441(A;A)
Alt	rs1057518441(A;A)
Reference	Rs1057518441(G;G)
Significance	Pathogenic
Disease	not specified RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
Variation	info
Gene	C21orf2
CLNDBN	not specified RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
Reversed	1
HGVS	NC_000021.8:g.45753107C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000414544.1, RCV000492050.1,