rs137854436

Orientation

minus

Stabilized

minus

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

Make rs137854436(C;T)

Make rs137854436(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

143728269

Gene

FAM83H

is a	snp
is	mentioned by
dbSNP	rs137854436
dbSNP (classic)	rs137854436
ClinGen	rs137854436
ebi	rs137854436
HLI	rs137854436
Exac	rs137854436
Gnomad	rs137854436
Varsome	rs137854436
LitVar	rs137854436
Map	rs137854436
PheGenI	rs137854436
Biobank	rs137854436
1000 genomes	rs137854436
hgdp	rs137854436
ensembl	rs137854436
geneview	rs137854436
scholar	rs137854436
google	rs137854436
pharmgkb	rs137854436
gwascentral	rs137854436
openSNP	rs137854436
23andMe	rs137854436
SNPshot	rs137854436
SNPdbe	rs137854436
MSV3d	rs137854436
GWAS Ctlg	rs137854436

Max Magnitude

0

OMIM	611927
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137854436(T;T)
Alt	rs137854436(T;T)
Reference	Rs137854436(C;C)
Significance	Pathogenic
Disease	Amelogenesis imperfecta
Variation	info
Gene	FAM83H
CLNDBN	Amelogenesis imperfecta, hypocalcification type
Reversed	1
HGVS	NC_000008.10:g.144810439G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000807.4,