rs431905508

Orientation

minus

Stabilized

minus

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

Make rs431905508(A;A)

Make rs431905508(A;G)

Reference

GRCh38 38.1/142

Chromosome

4

Position

169589478

Gene

NEK1

is a	snp
is	mentioned by
dbSNP	rs431905508
dbSNP (classic)	rs431905508
ClinGen	rs431905508
ebi	rs431905508
HLI	rs431905508
Exac	rs431905508
Gnomad	rs431905508
Varsome	rs431905508
LitVar	rs431905508
Map	rs431905508
PheGenI	rs431905508
Biobank	rs431905508
1000 genomes	rs431905508
hgdp	rs431905508
ensembl	rs431905508
geneview	rs431905508
scholar	rs431905508
google	rs431905508
pharmgkb	rs431905508
gwascentral	rs431905508
openSNP	rs431905508
23andMe	rs431905508
SNPshot	rs431905508
SNPdbe	rs431905508
MSV3d	rs431905508
GWAS Ctlg	rs431905508

Max Magnitude

0

ClinVar
Risk	rs431905508(A;A)
Alt	rs431905508(A;A)
Reference	Rs431905508(G;G)
Significance	Pathogenic
Disease	Short rib-polydactyly syndrome
Variation	info
Gene	NEK1
CLNDBN	Short rib-polydactyly syndrome, Majewski type
Reversed	1
HGVS	NC_000004.11:g.170510629C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000033162.4,