Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
BRAF
CUI: C4287590
Disease: Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features
Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features 		0.030 GeneticVariation BEFREE Although additional studies are needed to define a specific molecular profile to aid in the diagnosis of lesions with borderline morphological characteristics, we confirmed that the BRAF V600E mutation is an important tool to exclude the diagnosis of NIFTP. 31671409

2019
dbSNP: rs113488022
rs113488022
BRAF
CUI: C4287590
Disease: Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features
Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features 		0.030 GeneticVariation BEFREE Mutations included RAS in 20 of the 32 NIFTPs (62%), 4 of the 11 FAs (36%), and 3 of the 4 IE-PTC-FVs (75%); BRAF K601E in 1 NIFTP (3%); BRAF V600E in 5 PTC-EFGs (36%). 29582677

2018
dbSNP: rs113488022
rs113488022
BRAF
CUI: C4287590
Disease: Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features
Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features 		0.030 GeneticVariation BEFREE One case not meeting criteria for NIFTP maintained the diagnosis of encapsulated FVPTC without invasion but demonstrated significant mitotic activity (three mitoses/ten HPF) and lacked lymph node metastases and BRAF V600E mutation. 29368294

2018