NEFH, neurofilament heavy, 4744

N. diseases: 120; N. variants: 4
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs606231212
rs606231212
22 29489621 inframe deletion CAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGG/- delins
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs876657411
rs876657411
1.000 22 29490649 frameshift variant GA/- delins
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
0.700 0
dbSNP: rs876657412
rs876657412
1.000 22 29490656 frameshift variant -/AGCC delins
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
0.700 0
dbSNP: rs946135215
rs946135215
1.000 0.080 22 29480368 missense variant G/A snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1998 1998