rs61750172

Orientation

plus

Stabilized

plus

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

Make rs61750172(C;T)

Make rs61750172(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

8014700

Gene

GUCY2D

is a	snp
is	mentioned by
dbSNP	rs61750172
dbSNP (classic)	rs61750172
ClinGen	rs61750172
ebi	rs61750172
HLI	rs61750172
Exac	rs61750172
Gnomad	rs61750172
Varsome	rs61750172
LitVar	rs61750172
Map	rs61750172
PheGenI	rs61750172
Biobank	rs61750172
1000 genomes	rs61750172
hgdp	rs61750172
ensembl	rs61750172
geneview	rs61750172
scholar	rs61750172
google	rs61750172
pharmgkb	rs61750172
gwascentral	rs61750172
openSNP	rs61750172
23andMe	rs61750172
SNPshot	rs61750172
SNPdbe	rs61750172
MSV3d	rs61750172
GWAS Ctlg	rs61750172

Max Magnitude

0

OMIM	600179
Desc
Variant	0006
Related	also

OMIM	600179
Desc
Variant	0007
Related	also

ClinVar
Risk	rs61750172(A;A) rs61750172(T;T)
Alt	rs61750172(A;A) rs61750172(T;T)
Reference	Rs61750172(C;C)
Significance	Pathogenic
Disease	Cone-rod dystrophy 6 not provided
Variation	info
Gene	GUCY2D
CLNDBN	Cone-rod dystrophy 6 not provided
Reversed	0
HGVS	NC_000017.10:g.7918018C>A; NC_000017.10:g.7918018C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009948.4, RCV000084861.1, RCV000009949.3, RCV000009950.2, RCV000084862.1,