rs111619594

Orientation

plus

Stabilized

plus

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

Make rs111619594(A;T)

Make rs111619594(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

93780962

Gene

TMEM67

is a	snp
is	mentioned by
dbSNP	rs111619594
dbSNP (classic)	rs111619594
ClinGen	rs111619594
ebi	rs111619594
HLI	rs111619594
Exac	rs111619594
Gnomad	rs111619594
Varsome	rs111619594
LitVar	rs111619594
Map	rs111619594
PheGenI	rs111619594
Biobank	rs111619594
1000 genomes	rs111619594
hgdp	rs111619594
ensembl	rs111619594
geneview	rs111619594
scholar	rs111619594
google	rs111619594
pharmgkb	rs111619594
gwascentral	rs111619594
openSNP	rs111619594
23andMe	rs111619594
SNPshot	rs111619594
SNPdbe	rs111619594
MSV3d	rs111619594
GWAS Ctlg	rs111619594

GMAF

0.001377

Max Magnitude

0

OMIM	609884
Desc
Variant	0012
Related	also

ClinVar
Risk	rs111619594(T;T)
Alt	rs111619594(T;T)
Reference	Rs111619594(A;A)
Significance	Other
Disease	Bardet-Biedl syndrome 14 Nephronophthisis not specified
Variation	info
Gene	TMEM67
CLNDBN	Bardet-Biedl syndrome 14, modifier of Nephronophthisis not specified
Reversed	0
HGVS	NC_000008.10:g.94793190A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001444.5, RCV000234830.1, RCV000242814.2,