rs28942099

Orientation

minus

Stabilized

minus

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

Make rs28942099(A;A)

Make rs28942099(A;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

66995394

Gene	SBDS, TYW1

is a	snp
is	mentioned by
dbSNP	rs28942099
dbSNP (classic)	rs28942099
ClinGen	rs28942099
ebi	rs28942099
HLI	rs28942099
Exac	rs28942099
Gnomad	rs28942099
Varsome	rs28942099
LitVar	rs28942099
Map	rs28942099
PheGenI	rs28942099
Biobank	rs28942099
1000 genomes	rs28942099
hgdp	rs28942099
ensembl	rs28942099
geneview	rs28942099
scholar	rs28942099
google	rs28942099
pharmgkb	rs28942099
gwascentral	rs28942099
openSNP	rs28942099
23andMe	rs28942099
SNPshot	rs28942099
SNPdbe	rs28942099
MSV3d	rs28942099
GWAS Ctlg	rs28942099

Max Magnitude

0

OMIM	607444
Desc	SHWACHMAN-DIAMOND SYNDROME
Variant	0003
Related	also

ClinVar
Risk	rs28942099(A;A)
Alt	rs28942099(A;A)
Reference	Rs28942099(C;C)
Significance	Pathogenic
Disease	Shwachman syndrome
Variation	info
Gene	SBDS TYW1
CLNDBN	Shwachman syndrome
Reversed	1
HGVS	NC_000007.13:g.66460381G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003349.4,