rs869312925

Orientation

minus

Stabilized

minus

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

Make rs869312925(G;T)

Make rs869312925(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

16

Position

75647618

Gene	KARS, TERF2IP

is a	snp
is	mentioned by
dbSNP	rs869312925
dbSNP (classic)	rs869312925
ClinGen	rs869312925
ebi	rs869312925
HLI	rs869312925
Exac	rs869312925
Gnomad	rs869312925
Varsome	rs869312925
LitVar	rs869312925
Map	rs869312925
PheGenI	rs869312925
Biobank	rs869312925
1000 genomes	rs869312925
hgdp	rs869312925
ensembl	rs869312925
geneview	rs869312925
scholar	rs869312925
google	rs869312925
pharmgkb	rs869312925
gwascentral	rs869312925
openSNP	rs869312925
23andMe	rs869312925
SNPshot	rs869312925
SNPdbe	rs869312925
MSV3d	rs869312925
GWAS Ctlg	rs869312925

Max Magnitude

0

ClinVar
Risk	rs869312925(T;T)
Alt	rs869312925(T;T)
Reference	Rs869312925(G;G)
Significance	Probable-Pathogenic
Disease	Inborn genetic diseases
Variation	info
Gene	TERF2IP KARS
CLNDBN	Inborn genetic diseases
Reversed	1
HGVS	NC_000016.9:g.75681516C>A
CLNSRC
CLNACC	RCV000210604.1,