rs121912994

Orientation

plus

Stabilized

plus

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

Make rs121912994(A;A)

Make rs121912994(A;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

7574786

Gene

DSP

is a	snp
is	mentioned by
dbSNP	rs121912994
dbSNP (classic)	rs121912994
ClinGen	rs121912994
ebi	rs121912994
HLI	rs121912994
Exac	rs121912994
Gnomad	rs121912994
Varsome	rs121912994
LitVar	rs121912994
Map	rs121912994
PheGenI	rs121912994
Biobank	rs121912994
1000 genomes	rs121912994
hgdp	rs121912994
ensembl	rs121912994
geneview	rs121912994
scholar	rs121912994
google	rs121912994
pharmgkb	rs121912994
gwascentral	rs121912994
openSNP	rs121912994
23andMe	rs121912994
SNPshot	rs121912994
SNPdbe	rs121912994
MSV3d	rs121912994
GWAS Ctlg	rs121912994

Max Magnitude

0

OMIM	125647
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121912994(A;A)
Alt	rs121912994(A;A)
Reference	Rs121912994(T;T)
Significance	Pathogenic
Disease	Skin fragility woolly hair syndrome
Variation	info
Gene	DSP
CLNDBN	Skin fragility woolly hair syndrome
Reversed	0
HGVS	NC_000006.11:g.7575019T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018334.29,