rs386834261

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CCCTG;CCCTG)	0	common in clinvar
(GCCCT;GCCCT)	0	common in clinvar
(I;I)	0	common genotype

Make rs386834261(-;-)

Make rs386834261(-;CCCTG)

Reference

GRCh38 38.1/141

Chromosome

14

Position

67729338

Gene	GPHN, RDH12, ZFYVE26

is a	snp
is	mentioned by
dbSNP	rs386834261
dbSNP (classic)	rs386834261
ClinGen	rs386834261
ebi	rs386834261
HLI	rs386834261
Exac	rs386834261
Gnomad	rs386834261
Varsome	rs386834261
LitVar	rs386834261
Map	rs386834261
PheGenI	rs386834261
Biobank	rs386834261
1000 genomes	rs386834261
hgdp	rs386834261
ensembl	rs386834261
geneview	rs386834261
scholar	rs386834261
google	rs386834261
pharmgkb	rs386834261
gwascentral	rs386834261
openSNP	rs386834261
23andMe	rs386834261
SNPshot	rs386834261
SNPdbe	rs386834261
MSV3d	rs386834261
GWAS Ctlg	rs386834261

Max Magnitude

0

ClinVar
Risk	rs386834261(-;-) Rs386834261(GCCCT;GCCCT)
Alt	rs386834261(-;-) Rs386834261(GCCCT;GCCCT)
Reference	Rs386834261(CCCTG;CCCTG)
Significance	Pathogenic
Disease	Leber congenital amaurosis 13
Variation	info
Gene	RDH12
CLNDBN	Leber congenital amaurosis 13
Reversed	0
HGVS	NC_000014.8:g.68196055_68196059delCCCTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002128.6,