rs387907130

Orientation

minus

Stabilized

minus

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

Make rs387907130(C;T)

Make rs387907130(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

76478999

Gene

RHBDF2

is a	snp
is	mentioned by
dbSNP	rs387907130
dbSNP (classic)	rs387907130
ClinGen	rs387907130
ebi	rs387907130
HLI	rs387907130
Exac	rs387907130
Gnomad	rs387907130
Varsome	rs387907130
LitVar	rs387907130
Map	rs387907130
PheGenI	rs387907130
Biobank	rs387907130
1000 genomes	rs387907130
hgdp	rs387907130
ensembl	rs387907130
geneview	rs387907130
scholar	rs387907130
google	rs387907130
pharmgkb	rs387907130
gwascentral	rs387907130
openSNP	rs387907130
23andMe	rs387907130
SNPshot	rs387907130
SNPdbe	rs387907130
MSV3d	rs387907130
GWAS Ctlg	rs387907130

Max Magnitude

0

ClinVar
Risk	rs387907130(T;T)
Alt	rs387907130(T;T)
Reference	Rs387907130(C;C)
Significance	Pathogenic
Disease	Howel-Evans syndrome
Variation	info
Gene	RHBDF2
CLNDBN	Howel-Evans syndrome
Reversed	1
HGVS	NC_000017.10:g.74475081G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024178.5,