rs137854438

Orientation

minus

Stabilized

minus

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

Make rs137854438(A;A)

Make rs137854438(A;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

143728570

Gene

FAM83H

is a	snp
is	mentioned by
dbSNP	rs137854438
dbSNP (classic)	rs137854438
ClinGen	rs137854438
ebi	rs137854438
HLI	rs137854438
Exac	rs137854438
Gnomad	rs137854438
Varsome	rs137854438
LitVar	rs137854438
Map	rs137854438
PheGenI	rs137854438
Biobank	rs137854438
1000 genomes	rs137854438
hgdp	rs137854438
ensembl	rs137854438
geneview	rs137854438
scholar	rs137854438
google	rs137854438
pharmgkb	rs137854438
gwascentral	rs137854438
openSNP	rs137854438
23andMe	rs137854438
SNPshot	rs137854438
SNPdbe	rs137854438
MSV3d	rs137854438
GWAS Ctlg	rs137854438

Max Magnitude

0

OMIM	611927
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137854438(A;A)
Alt	rs137854438(A;A)
Reference	Rs137854438(T;T)
Significance	Pathogenic
Disease	Amelogenesis imperfecta
Variation	info
Gene	FAM83H
CLNDBN	Amelogenesis imperfecta, hypocalcification type
Reversed	1
HGVS	NC_000008.10:g.144810740A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000809.4,