rs387906542

Orientation

minus

Stabilized

minus

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

Make rs387906542(-;GCTGCTGCCGCGGCTGCCGCTGCAGCCGCCGCCGCCGCCGCCGCGTCGTCCT)

Make rs387906542(GCTGCTGCCGCGGCTGCCGCTGCAGCCGCCGCCGCCGCCGCCGCGTCGTCCT;GCTGCTGCCGCGGCTGCCGCTGCAGCCGCCGCCGCCGCCGCCGCGTCGTCCT)

Reference

GRCh38 38.1/141

Chromosome

7

Position

27199671

Gene	HOTTIP, HOXA13

is a	snp
is	mentioned by
dbSNP	rs387906542
dbSNP (classic)	rs387906542
ClinGen	rs387906542
ebi	rs387906542
HLI	rs387906542
Exac	rs387906542
Gnomad	rs387906542
Varsome	rs387906542
LitVar	rs387906542
Map	rs387906542
PheGenI	rs387906542
Biobank	rs387906542
1000 genomes	rs387906542
hgdp	rs387906542
ensembl	rs387906542
geneview	rs387906542
scholar	rs387906542
google	rs387906542
pharmgkb	rs387906542
gwascentral	rs387906542
openSNP	rs387906542
23andMe	rs387906542
SNPshot	rs387906542
SNPdbe	rs387906542
MSV3d	rs387906542
GWAS Ctlg	rs387906542

Max Magnitude

0

ClinVar
Risk	rs387906542(GCTGCTGCCGCGGCTGCCGCTGCAGCCGCCGCCGCCGCCGCCGCGTCGTCCT;GCTGCTGCCGCGGCTGCCGCTGCAGCCGCCGCCGCCGCCGCCGCGTCGTCCT)
Alt	rs387906542(GCTGCTGCCGCGGCTGCCGCTGCAGCCGCCGCCGCCGCCGCCGCGTCGTCCT;GCTGCTGCCGCGGCTGCCGCTGCAGCCGCCGCCGCCGCCGCCGCGTCGTCCT)
Reference	Rs387906542(-;-)
Significance	Pathogenic
Disease	Hand foot uterus syndrome
Variation	info
Gene	HOXA13 HOTTIP
CLNDBN	Hand foot uterus syndrome
Reversed	1
HGVS	NC_000007.13:g.27239291_27239342dup52
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000016025.21,