rs137854440

Orientation

minus

Stabilized

minus

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

Make rs137854440(C;T)

Make rs137854440(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

143727432

Gene

FAM83H

is a	snp
is	mentioned by
dbSNP	rs137854440
dbSNP (classic)	rs137854440
ClinGen	rs137854440
ebi	rs137854440
HLI	rs137854440
Exac	rs137854440
Gnomad	rs137854440
Varsome	rs137854440
LitVar	rs137854440
Map	rs137854440
PheGenI	rs137854440
Biobank	rs137854440
1000 genomes	rs137854440
hgdp	rs137854440
ensembl	rs137854440
geneview	rs137854440
scholar	rs137854440
google	rs137854440
pharmgkb	rs137854440
gwascentral	rs137854440
openSNP	rs137854440
23andMe	rs137854440
SNPshot	rs137854440
SNPdbe	rs137854440
MSV3d	rs137854440
GWAS Ctlg	rs137854440

Max Magnitude

0

OMIM	611927
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137854440(T;T)
Alt	rs137854440(T;T)
Reference	Rs137854440(C;C)
Significance	Pathogenic
Disease	Amelogenesis imperfecta
Variation	info
Gene	FAM83H
CLNDBN	Amelogenesis imperfecta, hypocalcification type
Reversed	1
HGVS	NC_000008.10:g.144809602G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000811.4,