rs878854339

Orientation

minus

Stabilized

minus

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

Make rs878854339(-;-)

Make rs878854339(-;CACAC)

Reference

GRCh38.p2 38.2/147

Chromosome

7

Position

40134416

Gene	MPLKIP, SUGCT

is a	snp
is	mentioned by
dbSNP	rs878854339
dbSNP (classic)	rs878854339
ClinGen	rs878854339
ebi	rs878854339
HLI	rs878854339
Exac	rs878854339
Gnomad	rs878854339
Varsome	rs878854339
LitVar	rs878854339
Map	rs878854339
PheGenI	rs878854339
Biobank	rs878854339
1000 genomes	rs878854339
hgdp	rs878854339
ensembl	rs878854339
geneview	rs878854339
scholar	rs878854339
google	rs878854339
pharmgkb	rs878854339
gwascentral	rs878854339
openSNP	rs878854339
23andMe	rs878854339
SNPshot	rs878854339
SNPdbe	rs878854339
MSV3d	rs878854339
GWAS Ctlg	rs878854339

Max Magnitude

0

ClinVar
Risk	rs878854339(-;-)
Alt	rs878854339(-;-)
Reference	Rs878854339(CACAC;CACAC)
Significance	Pathogenic
Disease	Trichothiodystrophy
Variation	info
Gene	SUGCT MPLKIP
CLNDBN	Trichothiodystrophy, nonphotosensitive 1
Reversed	1
HGVS	NC_000007.13:g.40174015_40174019delGTGTG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001922.4,