rs104894478

Orientation

minus

Stabilized

minus

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

Make rs104894478(A;G)

Make rs104894478(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

60648804

Gene

SIX1

is a	snp
is	mentioned by
dbSNP	rs104894478
dbSNP (classic)	rs104894478
ClinGen	rs104894478
ebi	rs104894478
HLI	rs104894478
Exac	rs104894478
Gnomad	rs104894478
Varsome	rs104894478
LitVar	rs104894478
Map	rs104894478
PheGenI	rs104894478
Biobank	rs104894478
1000 genomes	rs104894478
hgdp	rs104894478
ensembl	rs104894478
geneview	rs104894478
scholar	rs104894478
google	rs104894478
pharmgkb	rs104894478
gwascentral	rs104894478
openSNP	rs104894478
23andMe	rs104894478
SNPshot	rs104894478
SNPdbe	rs104894478
MSV3d	rs104894478
GWAS Ctlg	rs104894478

Max Magnitude

0

OMIM	601205
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894478(G;G)
Alt	rs104894478(G;G)
Reference	Rs104894478(A;A)
Significance	Pathogenic
Disease	Branchiootic syndrome 3 Melnick-Fraser syndrome not provided
Variation	info
Gene	SIX1
CLNDBN	Branchiootic syndrome 3 Melnick-Fraser syndrome not provided
Reversed	1
HGVS	NC_000014.8:g.61115522T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008806.3, RCV000055925.1, RCV000413341.1,