rs121909352

Orientation

minus

Stabilized

minus

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

Make rs121909352(A;A)

Make rs121909352(A;C)

Reference

GRCh38 38.1/141

Chromosome

8

Position

96145185

Gene

GDF6

is a	snp
is	mentioned by
dbSNP	rs121909352
dbSNP (classic)	rs121909352
ClinGen	rs121909352
ebi	rs121909352
HLI	rs121909352
Exac	rs121909352
Gnomad	rs121909352
Varsome	rs121909352
LitVar	rs121909352
Map	rs121909352
PheGenI	rs121909352
Biobank	rs121909352
1000 genomes	rs121909352
hgdp	rs121909352
ensembl	rs121909352
geneview	rs121909352
scholar	rs121909352
google	rs121909352
pharmgkb	rs121909352
gwascentral	rs121909352
openSNP	rs121909352
23andMe	rs121909352
SNPshot	rs121909352
SNPdbe	rs121909352
MSV3d	rs121909352
GWAS Ctlg	rs121909352

Max Magnitude

0

OMIM	601147
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121909352(A;A)
Alt	rs121909352(A;A)
Reference	Rs121909352(C;C)
Significance	Pathogenic
Disease	Klippel-Feil syndrome 1 Microphthalmia Leber congenital amaurosis 17 Klippel Feil syndrome not specified
Variation	info
Gene	GDF6
CLNDBN	Klippel-Feil syndrome 1, autosomal dominant Microphthalmia, isolated 4 Leber congenital amaurosis 17 Klippel Feil syndrome not specified
Reversed	1
HGVS	NC_000008.10:g.97157413G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008876.4, RCV000008877.4, RCV000054424.4, RCV000353571.1, RCV000428033.1,