rs28937875

Orientation

minus

Stabilized

minus

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

Make rs28937875(A;A)

Make rs28937875(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

10413360

Gene

MKKS

is a	snp
is	mentioned by
dbSNP	rs28937875
dbSNP (classic)	rs28937875
ClinGen	rs28937875
ebi	rs28937875
HLI	rs28937875
Exac	rs28937875
Gnomad	rs28937875
Varsome	rs28937875
LitVar	rs28937875
Map	rs28937875
PheGenI	rs28937875
Biobank	rs28937875
1000 genomes	rs28937875
hgdp	rs28937875
ensembl	rs28937875
geneview	rs28937875
scholar	rs28937875
google	rs28937875
pharmgkb	rs28937875
gwascentral	rs28937875
openSNP	rs28937875
23andMe	rs28937875
SNPshot	rs28937875
SNPdbe	rs28937875
MSV3d	rs28937875
GWAS Ctlg	rs28937875

Max Magnitude

0

OMIM	604896
Desc	BARDET-BIEDL SYNDROME 6
Variant	0005
Related	also

ClinVar
Risk	rs28937875(A;A)
Alt	rs28937875(A;A)
Reference	Rs28937875(G;G)
Significance	Pathogenic
Disease	Bardet-Biedl syndrome 6
Variation	info
Gene	MKKS
CLNDBN	Bardet-Biedl syndrome 6
Reversed	1
HGVS	NC_000020.10:g.10394008C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005636.4,