rs199947197

Orientation

plus

Stabilized

plus

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

Make rs199947197(C;C)

Make rs199947197(C;G)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

169424668

Gene

NEK1

is a	snp
is	mentioned by
dbSNP	rs199947197
dbSNP (classic)	rs199947197
ClinGen	rs199947197
ebi	rs199947197
HLI	rs199947197
Exac	rs199947197
Gnomad	rs199947197
Varsome	rs199947197
LitVar	rs199947197
Map	rs199947197
PheGenI	rs199947197
Biobank	rs199947197
1000 genomes	rs199947197
hgdp	rs199947197
ensembl	rs199947197
geneview	rs199947197
scholar	rs199947197
google	rs199947197
pharmgkb	rs199947197
gwascentral	rs199947197
openSNP	rs199947197
23andMe	rs199947197
SNPshot	rs199947197
SNPdbe	rs199947197
MSV3d	rs199947197
GWAS Ctlg	rs199947197

Max Magnitude

0

ClinVar
Risk	rs199947197(C;C)
Alt	rs199947197(C;C)
Reference	Rs199947197(G;G)
Significance	Other
Disease	Short rib-polydactyly syndrome
Variation	info
Gene	NEK1
CLNDBN	Short rib-polydactyly syndrome, Majewski type
Reversed	0
HGVS	NC_000004.11:g.170345819G>C
CLNSRC
CLNACC	RCV000190609.2,