rs137854443

Orientation

minus

Stabilized

minus

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

Make rs137854443(G;T)

Make rs137854443(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

143727381

Gene

FAM83H

is a	snp
is	mentioned by
dbSNP	rs137854443
dbSNP (classic)	rs137854443
ClinGen	rs137854443
ebi	rs137854443
HLI	rs137854443
Exac	rs137854443
Gnomad	rs137854443
Varsome	rs137854443
LitVar	rs137854443
Map	rs137854443
PheGenI	rs137854443
Biobank	rs137854443
1000 genomes	rs137854443
hgdp	rs137854443
ensembl	rs137854443
geneview	rs137854443
scholar	rs137854443
google	rs137854443
pharmgkb	rs137854443
gwascentral	rs137854443
openSNP	rs137854443
23andMe	rs137854443
SNPshot	rs137854443
SNPdbe	rs137854443
MSV3d	rs137854443
GWAS Ctlg	rs137854443

Max Magnitude

0

OMIM	611927
Desc
Variant	0009
Related	also

ClinVar
Risk	rs137854443(T;T)
Alt	rs137854443(T;T)
Reference	Rs137854443(G;G)
Significance	Pathogenic
Disease	Amelogenesis imperfecta
Variation	info
Gene	FAM83H
CLNDBN	Amelogenesis imperfecta, hypocalcification type
Reversed	1
HGVS	NC_000008.10:g.144809551C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000814.3,