rs199469621

Orientation

plus

Stabilized

plus

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

Make rs199469621(A;A)

Make rs199469621(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

74068666

Gene

ELN

is a	snp
is	mentioned by
dbSNP	rs199469621
dbSNP (classic)	rs199469621
ClinGen	rs199469621
ebi	rs199469621
HLI	rs199469621
Exac	rs199469621
Gnomad	rs199469621
Varsome	rs199469621
LitVar	rs199469621
Map	rs199469621
PheGenI	rs199469621
Biobank	rs199469621
1000 genomes	rs199469621
hgdp	rs199469621
ensembl	rs199469621
geneview	rs199469621
scholar	rs199469621
google	rs199469621
pharmgkb	rs199469621
gwascentral	rs199469621
openSNP	rs199469621
23andMe	rs199469621
SNPshot	rs199469621
SNPdbe	rs199469621
MSV3d	rs199469621
GWAS Ctlg	rs199469621

Max Magnitude

0

ClinVar
Risk	rs199469621(A;A)
Alt	rs199469621(A;A)
Reference	Rs199469621(G;G)
Significance	Pathogenic
Disease	Williams syndrome
Variation	info
Gene	ELN
CLNDBN	Williams syndrome
Reversed	0
HGVS	NC_000007.13:g.73482996G>A
CLNSRC
CLNACC