rs374385878

Orientation

plus

Stabilized

plus

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

Make rs374385878(A;A)

Make rs374385878(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

8

Position

61503433

Gene

ASPH

is a	snp
is	mentioned by
dbSNP	rs374385878
dbSNP (classic)	rs374385878
ClinGen	rs374385878
ebi	rs374385878
HLI	rs374385878
Exac	rs374385878
Gnomad	rs374385878
Varsome	rs374385878
LitVar	rs374385878
Map	rs374385878
PheGenI	rs374385878
Biobank	rs374385878
1000 genomes	rs374385878
hgdp	rs374385878
ensembl	rs374385878
geneview	rs374385878
scholar	rs374385878
google	rs374385878
pharmgkb	rs374385878
gwascentral	rs374385878
openSNP	rs374385878
23andMe	rs374385878
SNPshot	rs374385878
SNPdbe	rs374385878
MSV3d	rs374385878
GWAS Ctlg	rs374385878

Max Magnitude

0

ClinVar
Risk	rs374385878(A;A)
Alt	rs374385878(A;A)
Reference	Rs374385878(G;G)
Significance	Pathogenic
Disease	Facial dysmorphism
Variation	info
Gene	ASPH
CLNDBN	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
Reversed	0
HGVS	NC_000008.10:g.62415992G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000125464.2,