rs387907198

Orientation

plus

Stabilized

plus

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

Make rs387907198(C;C)

Make rs387907198(C;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

54932696

Gene

IRX5

is a	snp
is	mentioned by
dbSNP	rs387907198
dbSNP (classic)	rs387907198
ClinGen	rs387907198
ebi	rs387907198
HLI	rs387907198
Exac	rs387907198
Gnomad	rs387907198
Varsome	rs387907198
LitVar	rs387907198
Map	rs387907198
PheGenI	rs387907198
Biobank	rs387907198
1000 genomes	rs387907198
hgdp	rs387907198
ensembl	rs387907198
geneview	rs387907198
scholar	rs387907198
google	rs387907198
pharmgkb	rs387907198
gwascentral	rs387907198
openSNP	rs387907198
23andMe	rs387907198
SNPshot	rs387907198
SNPdbe	rs387907198
MSV3d	rs387907198
GWAS Ctlg	rs387907198

Max Magnitude

0

ClinVar
Risk	rs387907198(C;C)
Alt	rs387907198(C;C)
Reference	Rs387907198(G;G)
Significance	Pathogenic
Disease	Hamamy syndrome
Variation	info
Gene	IRX5
CLNDBN	Hamamy syndrome
Reversed	0
HGVS	NC_000016.9:g.54966608G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024602.3,