rs1057518863

Orientation

minus

Stabilized

minus

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

Make rs1057518863(A;A)

Make rs1057518863(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

48567190

Gene

COL7A1

is a	snp
is	mentioned by
dbSNP	rs1057518863
dbSNP (classic)	rs1057518863
ClinGen	rs1057518863
ebi	rs1057518863
HLI	rs1057518863
Exac	rs1057518863
Gnomad	rs1057518863
Varsome	rs1057518863
LitVar	rs1057518863
Map	rs1057518863
PheGenI	rs1057518863
Biobank	rs1057518863
1000 genomes	rs1057518863
hgdp	rs1057518863
ensembl	rs1057518863
geneview	rs1057518863
scholar	rs1057518863
google	rs1057518863
pharmgkb	rs1057518863
gwascentral	rs1057518863
openSNP	rs1057518863
23andMe	rs1057518863
SNPshot	rs1057518863
SNPdbe	rs1057518863
MSV3d	rs1057518863
GWAS Ctlg	rs1057518863

Max Magnitude

0

ClinVar
Risk	rs1057518863(A;A)
Alt	rs1057518863(A;A)
Reference	Rs1057518863(G;G)
Significance	Probable-Pathogenic
Disease	Finger syndactyly Palmoplantar blistering Short stature Toe syndactyly
Variation	info
Gene	COL7A1
CLNDBN	Finger syndactyly Palmoplantar blistering Short stature Toe syndactyly
Reversed	1
HGVS	NC_000003.11:g.48604623C>T
CLNSRC
CLNACC	RCV000415010.1,