rs397515561

Orientation

minus

Stabilized

minus

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

Make rs397515561(C;T)

Make rs397515561(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

60648856

Gene

SIX1

is a	snp
is	mentioned by
dbSNP	rs397515561
dbSNP (classic)	rs397515561
ClinGen	rs397515561
ebi	rs397515561
HLI	rs397515561
Exac	rs397515561
Gnomad	rs397515561
Varsome	rs397515561
LitVar	rs397515561
Map	rs397515561
PheGenI	rs397515561
Biobank	rs397515561
1000 genomes	rs397515561
hgdp	rs397515561
ensembl	rs397515561
geneview	rs397515561
scholar	rs397515561
google	rs397515561
pharmgkb	rs397515561
gwascentral	rs397515561
openSNP	rs397515561
23andMe	rs397515561
SNPshot	rs397515561
SNPdbe	rs397515561
MSV3d	rs397515561
GWAS Ctlg	rs397515561

Max Magnitude

0

ClinVar
Risk	rs397515561(T;T)
Alt	rs397515561(T;T)
Reference	Rs397515561(C;C)
Significance	Pathogenic
Disease	Melnick-Fraser syndrome
Variation	info
Gene	SIX1
CLNDBN	Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000014.8:g.61115574G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055924.1,