rs104894615

Orientation

plus

Stabilized

plus

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

Make rs104894615(C;C)

Make rs104894615(C;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

56594838

Gene

NOG

is a	snp
is	mentioned by
dbSNP	rs104894615
dbSNP (classic)	rs104894615
ClinGen	rs104894615
ebi	rs104894615
HLI	rs104894615
Exac	rs104894615
Gnomad	rs104894615
Varsome	rs104894615
LitVar	rs104894615
Map	rs104894615
PheGenI	rs104894615
Biobank	rs104894615
1000 genomes	rs104894615
hgdp	rs104894615
ensembl	rs104894615
geneview	rs104894615
scholar	rs104894615
google	rs104894615
pharmgkb	rs104894615
gwascentral	rs104894615
openSNP	rs104894615
23andMe	rs104894615
SNPshot	rs104894615
SNPdbe	rs104894615
MSV3d	rs104894615
GWAS Ctlg	rs104894615

Max Magnitude

0

OMIM	602991
Desc
Variant	0016
Related	also

ClinVar
Risk	rs104894615(C;C)
Alt	rs104894615(C;C)
Reference	Rs104894615(G;G)
Significance	Pathogenic
Disease	Symphalangism-brachydactyly syndrome
Variation	info
Gene	NOG
CLNDBN	Symphalangism-brachydactyly syndrome
Reversed	0
HGVS	NC_000017.10:g.54672199G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007099.2,