rs119456967

Orientation

minus

Stabilized

minus

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

Make rs119456967(C;C)

Make rs119456967(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

138947133

Gene

SIL1

is a	snp
is	mentioned by
dbSNP	rs119456967
dbSNP (classic)	rs119456967
ClinGen	rs119456967
ebi	rs119456967
HLI	rs119456967
Exac	rs119456967
Gnomad	rs119456967
Varsome	rs119456967
LitVar	rs119456967
Map	rs119456967
PheGenI	rs119456967
Biobank	rs119456967
1000 genomes	rs119456967
hgdp	rs119456967
ensembl	rs119456967
geneview	rs119456967
scholar	rs119456967
google	rs119456967
pharmgkb	rs119456967
gwascentral	rs119456967
openSNP	rs119456967
23andMe	rs119456967
SNPshot	rs119456967
SNPdbe	rs119456967
MSV3d	rs119456967
GWAS Ctlg	rs119456967

Max Magnitude

0

OMIM	608005
Desc
Variant	0007
Related	also

ClinVar
Risk	rs119456967(C;C)
Alt	rs119456967(C;C)
Reference	Rs119456967(T;T)
Significance	Pathogenic
Disease	Marinesco-Sjögren syndrome
Variation	info
Gene	SIL1
CLNDBN	Marinesco-Sjögren syndrome
Reversed	1
HGVS	NC_000005.9:g.138282822A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002746.4,