rs386833997

minus

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

Make rs386833997(A;C)

Make rs386833997(C;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

53652858

Gene

RPGRIP1L

is a	snp
is	mentioned by
dbSNP	rs386833997
dbSNP (classic)	rs386833997
ClinGen	rs386833997
ebi	rs386833997
HLI	rs386833997
Exac	rs386833997
Gnomad	rs386833997
Varsome	rs386833997
LitVar	rs386833997
Map	rs386833997
PheGenI	rs386833997
Biobank	rs386833997
1000 genomes	rs386833997
hgdp	rs386833997
ensembl	rs386833997
geneview	rs386833997
scholar	rs386833997
google	rs386833997
pharmgkb	rs386833997
gwascentral	rs386833997
openSNP	rs386833997
23andMe	rs386833997
SNPshot	rs386833997
SNPdbe	rs386833997
MSV3d	rs386833997
GWAS Ctlg	rs386833997

Max Magnitude

0

ClinVar
Risk	rs386833997(C;C) rs386833997(G;G)
Alt	rs386833997(C;C) rs386833997(G;G)
Reference	Rs386833997(A;A)
Significance	Probable-Pathogenic
Disease	Meckel syndrome type 5
Variation	info
Gene	RPGRIP1L
CLNDBN	Meckel syndrome type 5
Reversed	1
HGVS	NC_000016.9:g.53686770T>G
CLNSRC	ClinVar
CLNACC	RCV000049974.1,

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