rs483352906

Orientation

minus

Stabilized

minus

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

Make rs483352906(A;G)

Make rs483352906(G;G)

Reference

GRCh38 38.1/142

Chromosome

4

Position

169577081

Gene

NEK1

is a	snp
is	mentioned by
dbSNP	rs483352906
dbSNP (classic)	rs483352906
ClinGen	rs483352906
ebi	rs483352906
HLI	rs483352906
Exac	rs483352906
Gnomad	rs483352906
Varsome	rs483352906
LitVar	rs483352906
Map	rs483352906
PheGenI	rs483352906
Biobank	rs483352906
1000 genomes	rs483352906
hgdp	rs483352906
ensembl	rs483352906
geneview	rs483352906
scholar	rs483352906
google	rs483352906
pharmgkb	rs483352906
gwascentral	rs483352906
openSNP	rs483352906
23andMe	rs483352906
SNPshot	rs483352906
SNPdbe	rs483352906
MSV3d	rs483352906
GWAS Ctlg	rs483352906

Max Magnitude

0

ClinVar
Risk	rs483352906(G;G)
Alt	rs483352906(G;G)
Reference	Rs483352906(A;A)
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.170498232T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023382.4,