rs397515560

Orientation

minus

Stabilized

minus

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

Make rs397515560(G;G)

Make rs397515560(G;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

60648873

Gene

SIX1

is a	snp
is	mentioned by
dbSNP	rs397515560
dbSNP (classic)	rs397515560
ClinGen	rs397515560
ebi	rs397515560
HLI	rs397515560
Exac	rs397515560
Gnomad	rs397515560
Varsome	rs397515560
LitVar	rs397515560
Map	rs397515560
PheGenI	rs397515560
Biobank	rs397515560
1000 genomes	rs397515560
hgdp	rs397515560
ensembl	rs397515560
geneview	rs397515560
scholar	rs397515560
google	rs397515560
pharmgkb	rs397515560
gwascentral	rs397515560
openSNP	rs397515560
23andMe	rs397515560
SNPshot	rs397515560
SNPdbe	rs397515560
MSV3d	rs397515560
GWAS Ctlg	rs397515560

Max Magnitude

0

ClinVar
Risk	rs397515560(G;G)
Alt	rs397515560(G;G)
Reference	Rs397515560(T;T)
Significance	Pathogenic
Disease	Melnick-Fraser syndrome
Variation	info
Gene	SIX1
CLNDBN	Melnick-Fraser syndrome
Reversed	1
HGVS	NC_000014.8:g.61115591A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055923.1,