rs386833998

minus

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

Make rs386833998(-;-)

Make rs386833998(-;TGAA)

Reference

GRCh38 38.1/141

Chromosome

16

Position

53686483

Gene

RPGRIP1L

is a	snp
is	mentioned by
dbSNP	rs386833998
dbSNP (classic)	rs386833998
ClinGen	rs386833998
ebi	rs386833998
HLI	rs386833998
Exac	rs386833998
Gnomad	rs386833998
Varsome	rs386833998
LitVar	rs386833998
Map	rs386833998
PheGenI	rs386833998
Biobank	rs386833998
1000 genomes	rs386833998
hgdp	rs386833998
ensembl	rs386833998
geneview	rs386833998
scholar	rs386833998
google	rs386833998
pharmgkb	rs386833998
gwascentral	rs386833998
openSNP	rs386833998
23andMe	rs386833998
SNPshot	rs386833998
SNPdbe	rs386833998
MSV3d	rs386833998
GWAS Ctlg	rs386833998

Max Magnitude

0

ClinVar
Risk	rs386833998(-;-)
Alt	rs386833998(-;-)
Reference	Rs386833998(TGAA;TGAA)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 5
Variation	info
Gene	RPGRIP1L
CLNDBN	Meckel syndrome type 5
Reversed	1
HGVS	NC_000016.9:g.53720395_53720398delTTCA
CLNSRC	ClinVar
CLNACC	RCV000049975.1,

[PMID 21068128 ] Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.