rs104893831

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	7	Von Hippel-Lindau syndrome mutation

Make rs104893831(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

10146549

Gene

VHL

is a	snp
is	mentioned by
dbSNP	rs104893831
dbSNP (classic)	rs104893831
ClinGen	rs104893831
ebi	rs104893831
HLI	rs104893831
Exac	rs104893831
Gnomad	rs104893831
Varsome	rs104893831
LitVar	rs104893831
Map	rs104893831
PheGenI	rs104893831
Biobank	rs104893831
1000 genomes	rs104893831
hgdp	rs104893831
ensembl	rs104893831
geneview	rs104893831
scholar	rs104893831
google	rs104893831
pharmgkb	rs104893831
gwascentral	rs104893831
openSNP	rs104893831
23andMe	rs104893831
SNPshot	rs104893831
SNPdbe	rs104893831
MSV3d	rs104893831
GWAS Ctlg	rs104893831

Max Magnitude

7

aka c.376G>T (p.Asp126Tyr or D126Y), which is the pathogenic variant; note also that c.376G>A (p.Asp126Asn) and c.376G>C (p.Asp126His) are known, but their pathogenicity is uncertain according to ClinVar submitters

23andMe name for c.376G>T: i5006379

OMIM	608537
Desc
Variant	0022
Related	also

ClinVar
Risk	rs104893831(A;A) rs104893831(T;T)
Alt	rs104893831(A;A) rs104893831(T;T)
Reference	Rs104893831(G;G)
Significance	Pathogenic
Disease	Hereditary cancer-predisposing syndrome not specified Erythrocytosis
Variation	info
Gene	VHL
CLNDBN	Hereditary cancer-predisposing syndrome not specified Erythrocytosis, familial, 2
Reversed	0
HGVS	NC_000003.11:g.10188233G>A; NC_000003.11:g.10188233G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000129380.2, RCV000236702.1, RCV000002318.3,