rs199718602

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3.3	Vibratory urticaria (allergic reaction to vibrations)

Make rs199718602(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

14755069

Gene

ADGRE2

is a	snp
is	mentioned by
dbSNP	rs199718602
dbSNP (classic)	rs199718602
ClinGen	rs199718602
ebi	rs199718602
HLI	rs199718602
Exac	rs199718602
Gnomad	rs199718602
Varsome	rs199718602
LitVar	rs199718602
Map	rs199718602
PheGenI	rs199718602
Biobank	rs199718602
1000 genomes	rs199718602
hgdp	rs199718602
ensembl	rs199718602
geneview	rs199718602
scholar	rs199718602
google	rs199718602
pharmgkb	rs199718602
gwascentral	rs199718602
openSNP	rs199718602
23andMe	rs199718602
SNPshot	rs199718602
SNPdbe	rs199718602
MSV3d	rs199718602
GWAS Ctlg	rs199718602

Max Magnitude

3.3

rs199718602, also known as c.1475G>A, p.Cys492Tyr or C492Y, represents a very rare mutation in the ADGRE2 gene on chromosome 19.

Based on several Lebanese families and functional studies, the rs199718602(T) allele, as oriented in dbSNP orientation, is considered pathogenic (causative) for an autosomally dominant form of vibratory urticaria, a disorder in which localized hives develop in response to excessive vibration.[PMID 26841242 ]

ClinVar
Risk	rs199718602(T;T)
Alt	rs199718602(T;T)
Reference	Rs199718602(C;C)
Significance	Pathogenic
Disease	Vibratory urticaria
Variation	info
Gene	EMR2 ADGRE2
CLNDBN	Vibratory urticaria
Reversed	0
HGVS	NC_000019.9:g.14865881C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000207461.3,