rs387907107

Orientation

plus

Stabilized

plus

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

Make rs387907107(A;G)

Make rs387907107(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

75985787

Gene

IFT43

is a	snp
is	mentioned by
dbSNP	rs387907107
dbSNP (classic)	rs387907107
ClinGen	rs387907107
ebi	rs387907107
HLI	rs387907107
Exac	rs387907107
Gnomad	rs387907107
Varsome	rs387907107
LitVar	rs387907107
Map	rs387907107
PheGenI	rs387907107
Biobank	rs387907107
1000 genomes	rs387907107
hgdp	rs387907107
ensembl	rs387907107
geneview	rs387907107
scholar	rs387907107
google	rs387907107
pharmgkb	rs387907107
gwascentral	rs387907107
openSNP	rs387907107
23andMe	rs387907107
SNPshot	rs387907107
SNPdbe	rs387907107
MSV3d	rs387907107
GWAS Ctlg	rs387907107

Max Magnitude

0

ClinVar
Risk	rs387907107(G;G)
Alt	rs387907107(G;G)
Reference	Rs387907107(A;A)
Significance	Pathogenic
Disease	Cranioectodermal dysplasia 3
Variation	info
Gene	IFT43
CLNDBN	Cranioectodermal dysplasia 3
Reversed	0
HGVS	NC_000014.8:g.76452130A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024093.2,