rs1057518725

Orientation

plus

Stabilized

plus

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

Make rs1057518725(GT;GT)

Make rs1057518725(GT;TAAAGAC)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

54933783

Gene

IRX5

is a	snp
is	mentioned by
dbSNP	rs1057518725
dbSNP (classic)	rs1057518725
ClinGen	rs1057518725
ebi	rs1057518725
HLI	rs1057518725
Exac	rs1057518725
Gnomad	rs1057518725
Varsome	rs1057518725
LitVar	rs1057518725
Map	rs1057518725
PheGenI	rs1057518725
Biobank	rs1057518725
1000 genomes	rs1057518725
hgdp	rs1057518725
ensembl	rs1057518725
geneview	rs1057518725
scholar	rs1057518725
google	rs1057518725
pharmgkb	rs1057518725
gwascentral	rs1057518725
openSNP	rs1057518725
23andMe	rs1057518725
SNPshot	rs1057518725
SNPdbe	rs1057518725
MSV3d	rs1057518725
GWAS Ctlg	rs1057518725

Max Magnitude

0

ClinVar
Risk	rs1057518725(GT;GT)
Alt	rs1057518725(GT;GT)
Reference	Rs1057518725(TAAAGAC;TAAAGAC)
Significance	Pathogenic
Disease	Hamamy syndrome
Variation	info
Gene	IRX5
CLNDBN	Hamamy syndrome
Reversed	0
HGVS	NC_000016.9:g.54967695_54967701delTAAAGACinsGT
CLNSRC
CLNACC	RCV000415174.1,