rs869312900

Orientation

minus

Stabilized

minus

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

Make rs869312900(A;A)

Make rs869312900(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

7

Position

40134228

Gene	MPLKIP, SUGCT

is a	snp
is	mentioned by
dbSNP	rs869312900
dbSNP (classic)	rs869312900
ClinGen	rs869312900
ebi	rs869312900
HLI	rs869312900
Exac	rs869312900
Gnomad	rs869312900
Varsome	rs869312900
LitVar	rs869312900
Map	rs869312900
PheGenI	rs869312900
Biobank	rs869312900
1000 genomes	rs869312900
hgdp	rs869312900
ensembl	rs869312900
geneview	rs869312900
scholar	rs869312900
google	rs869312900
pharmgkb	rs869312900
gwascentral	rs869312900
openSNP	rs869312900
23andMe	rs869312900
SNPshot	rs869312900
SNPdbe	rs869312900
MSV3d	rs869312900
GWAS Ctlg	rs869312900

Max Magnitude

0

ClinVar
Risk	rs869312900(A;A)
Alt	rs869312900(A;A)
Reference	Rs869312900(G;G)
Significance	Pathogenic
Disease	Trichothiodystrophy
Variation	info
Gene	SUGCT MPLKIP
CLNDBN	Trichothiodystrophy, nonphotosensitive 1
Reversed	1
HGVS	NC_000007.13:g.40173827C>T
CLNSRC
CLNACC	RCV000210474.1,