rs199821258

Orientation

plus

Stabilized

plus

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

Make rs199821258(G;G)

Make rs199821258(G;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93765648

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs199821258
dbSNP (classic)	rs199821258
ClinGen	rs199821258
ebi	rs199821258
HLI	rs199821258
Exac	rs199821258
Gnomad	rs199821258
Varsome	rs199821258
LitVar	rs199821258
Map	rs199821258
PheGenI	rs199821258
Biobank	rs199821258
1000 genomes	rs199821258
hgdp	rs199821258
ensembl	rs199821258
geneview	rs199821258
scholar	rs199821258
google	rs199821258
pharmgkb	rs199821258
gwascentral	rs199821258
openSNP	rs199821258
23andMe	rs199821258
SNPshot	rs199821258
SNPdbe	rs199821258
MSV3d	rs199821258
GWAS Ctlg	rs199821258

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs199821258(G;G)
Alt	rs199821258(G;G)
Reference	Rs199821258(T;T)
Significance	Pathogenic
Disease	Joubert syndrome 6 Meckel syndrome type 3
Variation	info
Gene	TMEM67
CLNDBN	Joubert syndrome 6 Meckel syndrome type 3
Reversed	0
HGVS	NC_000008.10:g.94777876T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001439.4, RCV000050199.1,

[PMID 17397051] Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.