rs199476139

Orientation

plus

Stabilized

plus

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

Make rs199476139(-;T)

Make rs199476139(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

8616

Gene

ATP6

is a	snp
is	mentioned by
dbSNP	rs199476139
dbSNP (classic)	rs199476139
ClinGen	rs199476139
ebi	rs199476139
HLI	rs199476139
Exac	rs199476139
Gnomad	rs199476139
Varsome	rs199476139
LitVar	rs199476139
Map	rs199476139
PheGenI	rs199476139
Biobank	rs199476139
1000 genomes	rs199476139
hgdp	rs199476139
ensembl	rs199476139
geneview	rs199476139
scholar	rs199476139
google	rs199476139
pharmgkb	rs199476139
gwascentral	rs199476139
openSNP	rs199476139
23andMe	rs199476139
SNPshot	rs199476139
SNPdbe	rs199476139
MSV3d	rs199476139
GWAS Ctlg	rs199476139

Max Magnitude

0

ClinVar
Risk	rs199476139(T;T)
Alt	rs199476139(T;T)
Reference	Rs199476139(;)
Significance	Pathogenic
Disease	Neuropathy ataxia retinitis pigmentosa syndrome
Variation	info
Gene
CLNDBN	Neuropathy ataxia retinitis pigmentosa syndrome
Reversed	0
HGVS	NC_012920.1:m.8616_8617insT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010283.3,