rs104894614

Orientation

plus

Stabilized

plus

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

Make rs104894614(C;T)

Make rs104894614(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

56594551

Gene

NOG

is a	snp
is	mentioned by
dbSNP	rs104894614
dbSNP (classic)	rs104894614
ClinGen	rs104894614
ebi	rs104894614
HLI	rs104894614
Exac	rs104894614
Gnomad	rs104894614
Varsome	rs104894614
LitVar	rs104894614
Map	rs104894614
PheGenI	rs104894614
Biobank	rs104894614
1000 genomes	rs104894614
hgdp	rs104894614
ensembl	rs104894614
geneview	rs104894614
scholar	rs104894614
google	rs104894614
pharmgkb	rs104894614
gwascentral	rs104894614
openSNP	rs104894614
23andMe	rs104894614
SNPshot	rs104894614
SNPdbe	rs104894614
MSV3d	rs104894614
GWAS Ctlg	rs104894614

Max Magnitude

0

OMIM	602991
Desc
Variant	0013
Related	also

ClinVar
Risk	rs104894614(T;T)
Alt	rs104894614(T;T)
Reference	Rs104894614(C;C)
Significance	Pathogenic
Disease	Stapes ankylosis with broad thumb and toes
Variation	info
Gene	NOG
CLNDBN	Stapes ankylosis with broad thumb and toes
Reversed	0
HGVS	NC_000017.10:g.54671912C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007096.2,